Medical research charity, LifeArc, has announced that it is providing £5 million funding to support the work of the GenOMICC COVID-19 Study, led by the GenOMICC consortium in partnership with Genomics England. The study, launched in May 2020, is using genomics to investigate why some people are affected more severely by COVID-19, and increase our understanding about the disease.
GenOMICC is a global collaboration of doctors and scientists working together to understand and treat serious illnesses, including emerging infections like SARS, MERS and now COVID-19. The partnership with Genomics England was formed to enable large scale and rapid whole genome sequencing and analysis for NHS COVID-19 patients, leveraging Genomics England’s sequencing and analysis ecosystem available to researchers. LifeArc’s funding complements £4.6 million of additional funding already announced by the UK Department of Health and Social Care (DHSC), and will support the costs of patient enrolment, sample acquisition, sample processing, and bioinformatics analysis of patients. The aim is that, with a patient cohort and data set of this size, scientists will be able compare the genomes of people who had severe illness with those who had more manageable symptoms, to try to identify genetic factors associated with the body’s reaction to the virus.
It is anticipated that the output from this work will provide valuable insights into the fight against COVID-19 and potentially other coronavirus infections. This is the first time that a systematic whole genome analysis of patients of a viral pandemic has been undertaken and it is hoped that this may also provide therapeutic and preventative strategies for future pandemics.
Chris Wigley , CEO at Genomics England, said: “At Genomics England, we are proud to be working with the NHS, the University of Edinburgh and other partners in the fight against COVID-19, to understand why people respond so differently to this terrible infection. Genomics is already giving us critical insights, as the partnership’s recent Nature paper and many others have shown. LifeArc’s support will allow us to accelerate and scale these insights and continue to feed them into clinical trials, clinical practice and fundamental research.”
Melanie Lee, Chief Executive Officer at LifeArc, said: “At LifeArc we focus on translation – advancing promising science into medical interventions that improve patients’ lives. This initiative moves us forwards to better understand the heterogeneity of responses to COVID amongst people, considering that genetic variation may play a key differentiating and therefore predictable role.
“It is hoped that this programme will provide rapid insights that can inform accurate diagnostics, and potential targets for drug development. We hope this work will also help inform the 15 clinical studies that we have funded into investigating existing drugs for efficacy in COVID patients, as part of the £27 million LifeArc has now allocated to research projects to tackle the COVID-19 pandemic.”
Dr Kenneth Baillie, Chief Investigator of the study and Academic Consultant in Critical Care Medicine, University of Edinburgh, said: “This support from LifeArc is a great boost for the GenOMICC consortium. The aim of GenOMICC is not only to find the genes that cause life-threatening disease, but to use that information to find new treatments. Our work on Covid-19 has already shown the potential of genetics to guide us about which drugs to test next. LifeArc’s focus, on translating scientific findings into real world impact, fits perfectly with this.”
The PHG Foundation is a charitable policy think tank whose mission is ’making science work for health‘. Philippa Brice, their External Affairs Director, is a member of the UK Pharmacogenetics & Stratified Medicine (UKPGx) Network Steering Committee.
We spoke with Philippa to find out more about her background, her current role, and her passion for science and communication.
“I originally studied pathology, specialising in infectious disease,” she told us, speaking of her time at Christ’s College, Cambridge. “I realised during my PhD that everyone else hated writing up their thesis, they complained like poison, whilst I thought it was terrific. I thought ‘I should pay attention to this’ - that I still loved the science, but actually preferred talking about it or helping put it to use rather than doing the actual research.”
After working in pharmaceutical intelligence and “somewhere between science communication and science policy” at the Cambridge Genetics Knowledge Park, Philippa found her way to the PHG Foundation, who were looking to develop their communications as a newly independent charity. The Foundation was looking for someone who could understand scientific research but also communicate findings to a wide range of audiences, including policy makers, researchers, healthcare professionals, lawyers and regulators. Her current role is all about people – bringing together expert voices and viewpoints to understand issues and propose the best ways forward.
“At the PHG Foundation, our focus has always been on genomics and technologies arising around genomics. We're particularly concerned with helping to support and develop policy that will accelerate the use of the best science into public health and healthcare practice… The (UKPGx) Network is doing an amazing job and you can tell that from the growing number of members, demonstrating that there’s quite a wide community of people with shared interests and expertise in pharmacogenetics and stratified medicine, which of course relates to many different aspects of personalised or precision medicine.
"We’ve got a lot to learn from each other, and the more we can share, the faster we can advance overall."
"Precision medicine is a very exciting area, not least how increasing understanding of cancer genomics is enabling the development of new targeted treatments – in fact I think it is potentially starting to change the whole face of how we understand cancer and future cancer care, too. However, pharmacogenetics can also deliver really significant health improvements for a whole range of conditions. Changing how we prescribe quite common medications based on our individual sensitivities should have small but significant benefits for very large numbers of patients – all of us, really, since we all need medicines at some stage.
“We talk about precision medicine now, but often we use the term to refer to tailoring treatment not to individual patients but to “sub-groups”, looking at how we stratify patients into groups for whom different treatments or doses are most appropriate. Stratification can really transform how we care for patients. I think it’s going to start delivering in the next few years, we’re going to see real benefits.
“The knowledge about genomics is so fast moving that the PHG Foundation is always trying to help health policy catch up, and the pace of change is only accelerating. Making the most of this incredible science for health means that a lot of people with different skills and expertise need to work together. I think that’s the great thing about the UKPGx Network; a lot of networks of this kind are essentially academic research networks, and that can be very valuable in itself, but this Network actively brings together the clinical, the commercial, the academic and the policy sectors. We’ve got a lot to learn from each other, and the more we can share, the faster we can advance overall.”
The Biomedical & Life Sciences Collection is an extensive resource of specially-commissioned online lectures by world leading experts. It includes both advanced and introductory-level talks on a wide range of topics ranging from basic research to therapeutic intervention.
Topics covered include genetics & genomics, drug development, the design and analysis of clinical trials, and much more. The collection can be used for teaching as well as a continuing support for researchers.
The Centre for Pharmacy Postgraduate Education (CPPE) was established in 1991 and is a not-for-profit organisation, funded by Health Education England. The CPPE is recognised as an effective provider of high-quality learning resources to pharmacists and pharmacy technicians in the NHS workforce across England. Hosted by the University of Manchester, the CPPE currently offers over 270 online training modules.
We spoke with Michal Lada, a CPPE Senior pharmacist in learning development, about their e-learning programme “Introduction to Genomics in Pharmacy.”
Michal told us that the programme was developed with pharmacists, pharmacy technicians and also pre-registration pharmacists in mind. The information was put together by experts in the field including Professor Dyfrig Hughes, co-director of the Centre for Health Economics and Medicines Evaluation at Bangor University. Sonali Sangvhi, Pharmacy Advisor at the NHS England Genomics Unit, as well as Dr Michelle Bishop, Education Development Lead at HEE Genomics Education Programme, provided external reviews of the e-learning. Other experts came from a variety of academic and professional backgrounds related to genomics and pharmacogenomics. Professor Hughes also acts as a programme guardian, ensuring that the content will be kept up to date with the ever-developing science behind this field.
The e-learning programme describes the role of genomics and pharmacogenomics in the healthcare context, discusses some of the terms and concepts used in genomics, and identifies some of the practical, ethical and social issues in implementing genomics in pharmacy. The programme covers the theory behind pharmacogenomics, but also contains inspirational accounts from healthcare professionals, including pharmacists, who work in various sectors related to genomics. Current and future challenges in bringing pharmacogenomics into healthcare are explored, and worldwide examples of the application of pharmacogenomic testing are presented. The programme also introduces the NHS Genomic Medicine Service.
Michal explained the importance of this topic, saying, “pharmacy is one of those healthcare professions that deals with medicines and supports patients in a very person-centered way. Genomics and pharmacogenomics appear more and more to be some of the most important factors in the management of treatments through, for example, the reduction of adverse reactions and improvement in medicines efficacy.”
The Department of Analysis and Bioanalysis of Medicines, working with the Clinical Research Center of the Department of Endocrinology, Diabetology and Internal Medicine, are performing one of the most comprehensive pharmacogenomics studies in Poland.
The main thrust of the project is the complete pharmacogenomics profiling of individuals, using high throughput sequencing (next generation sequencing) methods in order to reveal the specific functional genetic variants, which are responsible for different drug metabolism in patients and healthy individuals.
Alireza Tafazoli, a member of the UK Pharmacogenetics & Stratified Medicine Network, serves as PI for the project. Previous studies have focused on specific genes or drugs, whereas this study, based at the Medical University of Bialystok, will involve a large scale analysis of the genome. This advanced and comprehensive clinical pharmacology and pharmacogenomics project aims to take strides towards personalising medicine.
The P4 Precision Medicine Accelerator programme is led by Professor Phil Beales, Chair of the UCL Institute of Precision Medicine, Professor of Medical and Molecular Genetics at the UCL Great Ormond Street Institute of Child Health and UCLPartners. The delivery of precision medicine requires several sectors (academia, healthcare and industry) work together. It is the programme's mission to facilitate new and innovative collaborations with academia, industry and healthcare.
UCL have partnered with Capital Enterprise, a body of connectors, influencers, investors and policy-makers, collaborating to serve and super-charge London’s start-up scene.
The P4 programme creates a new and unique ecosystem to facilitate the scale and adoption of precision medicine SMEs by providing access to unparalleled expertise in genomic profiling, drug targeting, disease marker discovery, diagnostics/companion diagnostics, clinical trials design and delivery, software development, engineering, artificial intelligence, regulatory compliance and health data. Cross-faculty support led by the UCL Institute for Precision Medicine, leverages the talent pool of academics at UCL and its partners. Capital Enterprise has experience of supporting and scaling tech SMEs and providing access to unique funding streams to ensure SMEs thrive.
The Programme is a 6-12 month scale up programme (depending on stage), connecting you with academia, industry and the healthcare sectors to create a clear innovation pathway.
To gain the full benefit from this programme, it’s advised that companies:
- Work in the area of Precision Medicine*
- Be early- to mid-stage medical device, diagnostic, or digital health companies
- Not yet closed a Series B
- Be data-driven
- Be able to demonstrate their route to market with a time-frame of 12 – 18 months
- Have already received seed/grant funding
- Show team credibility (at least 3 members with complimentary and relevant expertise)
- Have Data Scientist involvement
- Use of AI
One of our members is setting up a project investigating the genetic determinants of therapeutic response in Non-Small Cell Lung Cancer and is looking for potential collaborators with an interest in cancer genomics and therapeutic responses.
Numerous cancer genome resequencing projects have been conducted to better understand the genetic causes of cancer. However, 3’UTR of genes has been largely ignored in the search of novel genetic variants associated with oncogenesis and acquired resistance to therapy. Discovering mechanisms of acquired resistance is vital in finding novel therapies and improve patient outcomes.
It has been shown that miRNAs play role in tumorigenesis by regulating expression of proto-oncogenes and tumour suppressor genes. These small non-coding miRNAs are known to bind to imperfect complementary sequences in the 3’UTR of target mRNAs. Genetic variants in 3’UTR regions might destroy or create a miRNA binding site leading to changes in gene expression. Hence, 3’UTR variation in cancer genes has a potential to affect cancer susceptibility, therapeutic response and disease outcome.
This project seeks to interrogate single nucleotide polymorphisms (SNPs) in miRNA binding sites in the 3’UTR of driver genes linked to non-small cell lung cancer (NSCLC) development as well as the genes associated with drug metabolism with the aim of identifying novel genetic determinants of response to tyrosine kinase inhibitors (TKIs).
Newly identified molecular biomarkers may be useful for future research of therapeutic strategies in NSCLC and would aid patient stratification for cancer treatment.
Do you have a project that you would like us to feature on our website? If so, please click here for our "Create A Collaboration" form.
In 2019, the International Society of Pharmacovigilance (ISoP) Executive Committee encouraged the creation and development of a new Special Interest Group (SIG) in ISoP dedicated to exploring issues relating to Pharmacovigilance relevant to medicines with PG associations, and on 5th May 2020 approved the Application for the establishment of the SIG. It is planned to officially launch the SIG during the ISoP General Assembly October 2020.
The members of this group have a specific interest in pharmacogenomics (with all levels of expertise or experience with pharmacogenomics, from those who are full time in the speciality, to those who want to learn more. What really counts is a healthy interest in and enthusiasm for the topic and a willingness to contribute).
The overall aim of the Pharmacogenomics SIG is to provide an opportunity for ISoP members interested in pharmacogenomics to share and provide information on relevant issues and developments; and to support pharmacovigilance relevant to medicinal products with pharmacogenomic associations.
The key objectives are:
1. To create opportunities for those researching and investigating pharmacogenomics to network and encourage collaboration and regularly share news and information to Pharmacogenomics subgroup members to expand knowledge of how medicines cause adverse reactions in genomic subpopulations and why efficacy would be different as well.
2. To exchange experiences and provide support to healthcare professionals and/or organizations on evaluation of the pharmacovigilance related issues associated with pharmacogenomic biomarkers.
3. To organise and/or support training and tutorials for pharmacovigilance centres to increase understanding while focussing on aspects of pharmacovigilance and risk minimisation measures relevant to medicinal products with pharmacogenomic associations. Insights from this can improve benefit-risk balance in genomic subpopulations and lead to better and more original study designs.
4. To organise, where possible, a session at the ISoP annual meeting each year on the topic of pharmacogenomics in pharmacovigilance.
5. To advise the ISoP Executive Committee, where required, on issues relating to pharmacogenomics in pharmacovigilance.
My Personal Therapeutics and Pentavere Research Group have achieved EUREKA Collaborative R&D: AI and Quantum Technologies Competition success for their project Utilisation of AI to develop Personalised Treatment Plans for cancer.
Funding totalling £792,000 is co-funded by the UK’s innovation agency, Innovate UK, and Canada’s National Research Council’s Industrial Research Assistant Program, as part of their Collaborate R&D programme. These funds will be used by Pentavere Research Group and My Personal Therapeutics to access Genomics England’s whole genome sequencing lung cancer data set and selectively generate drosophila avatars for high-throughput drug screening. The resulting tumour genomic profile and corresponding drug treatment recommendation data will feed into the AI Personal Discovery Process predictive model. Potentially, some of the funding can support personalised treatment recommendations for lung cancer patients in the UK.
"This Eureka award will partly fund this ground-breaking collaboration between My Personal Therapeutics, Pentavere and Genomics England towards the development of our rapid personalised cancer therapeutics offering – AI PDP, " said My Personal Therapeutics’ CEO Laura Towart.
My Personal Therapeutics is a London based medtech/digital therapeutics company offering personalised cancer therapeutics utilising technology developed at Mt Sinai Medical Center. The Personal Discovery Process technology leverages Big Data curated from electronic health records, and genomics to build personalised fruit fly ‘avatars’ that model individual patients at an unprecedented level of complexity. Using robotics, thousands of drugs are screened in combinations to identify drug cocktails designed to target the tumour while preserving the patient’s quality of life. Nearly all combinations incorporate non-cancer drugs, making them less toxic and more affordable. We are integrating AI/ predictive modeling to enable rapid personalised treatment recommendations.
Oxford Global are pleased to release their 2019 Single Cell Analysis Market Survey.
In this survey, they focus solely on the application of single cell analysis for "omics" - genomics, transcriptomics, epigenomics and proteomics. Omic-based single cell analysis is a rapidly expanding field, with respondents from pharma, biotech and clinical research institutions in the survey currently applying these methods.
The survey explores the opportunities provided by Single Cell analysis as well as their challenges. It highlights the trends in Single-Cell Omics, provides a view of the latest technological developments and applications of single-cell technologies in the field of biomedicine, for example in cancer, metabolic and neuro diseases, immunology and reproductive health.
Peter Franko, SYNGEN 2019 Portfolio Director, said, "This survey is a valuable report for bioinformaticians, molecular diagnostic researchers, clinicians who are interested in understanding more about single-cell omics, its potential for research and diagnosis and its opportunities and challenges."
A roundtable, held jointly between the Academy of Medical Sciences, the Medical Research Council and the National Institute for Health Research brought together experts from across the life sciences sectors to explore the challenges, opportunities and priorities for research and development of AI-driven technologies to ensure the benefits of AI in health can be fully achieved.
As AI continues to expand within the healthcare sector, the Academy’s roundtable provided a much-needed opportunity for members of the AI community, including experts from academia and industry, to come together with the NHS and funding bodies in an intimate, solution-focussed setting to identify priorities that will lead to future advantages for patients and the public.
One such priority calls on research funders to work with the wider UK community – including academia, industry, the NHS, public and private funders, regulators, patients and the public – to set out and deliver key research areas for AI and health. The meeting provided an important catalytic platform, acting as a starting point for innovative conversations that could lead to future collaborative work. If the UK is to remain a world-leader in AI health research, the sector must now take these initial discussions forward with this wider group of stakeholders.
The NIHR has launched a new toolkit for researchers, to help them deliver the high quality health services research that the NHS needs.
The Health Services Research Toolkit is a national resource which brings together ideas, guidance and support in one place. The NIHR funds and supports the set up and delivery of a wide range of research studies that deal with the development of health services.
The HSR Toolkit has been launched by the NIHR Clinical Research Network (NIHR CRN), which provides researchers with the practical support they need to make clinical studies happen in both the NHS and the wider health and social care environment. The toolkit is for researchers who are interested in or already delivering research with a focus on improving the quality, accessibility and organisation of health services, and as such is applicable to a number of different clinical specialties.
Professor Peter Bower, NIHR National Specialty Lead for Health Services Research, said: “Health services research is critical for an NHS that is effective, efficient and centred on patient need.
“However, there are challenges to delivering good quality health services research and the new HSR Toolkit is designed to help researchers navigate these and support them to deliver their health services research studies successfully.
"The new toolkit will feature blogs on key health services research issues, links to the latest guidance on best practice, and case studies of innovative ways of delivering high quality health services research."
We understand that for many researchers, making the leap to independent research can be a challenging time. That’s why we’ve been working to ensure we can provide our researchers with the support they need to navigate this process. Professor Moira Whyte, Head of the College of Medicine and Veterinary Medicine at the University of Edinburgh and Chair of the MRC’s Training and Careers Group, guides us through what we can offer to help early-career researchers in the transition.
Making the move from postdoc in someone else’s group to making your mark as an independent researcher can be a tough career stage. As noted in a recent article – The life of P.I. Transitions to Independence in Academia – early-career researchers (ECRs) face numerous barriers to securing posts, staff, time and funding. This comes at a time when they are trying to make their mark scientifically and generate the outputs that will get them recognised as leaders in their field, and we’ve heard from our own fellows, from both basic scientific and clinical backgrounds, about what a critical career stage this is.
To help, we’ve prioritised support at this career stage for a number of years, offering targeted support for ECRs who are making the transition to independence across the range of our funding: through fellowships (Career Development Awards and Clinician Scientist Fellowships), grants awarded by our research boards (New Investigator Research Grants) and through programme leader track posts in our institutes and university units.
Each of these mechanisms offers a route for ECRs to secure their own significant funding for the first time. They include support, funding and protected time for setting up their first research team and leading their own research project. The newly launched UK Research and Innovation Future Leaders Fellowships offer a further option for researchers at this career stage.
We’ve been working hard to improve our guidance for ECRs navigating their options, including clarifying the key aims and characteristics of some of these mechanisms. We’ve updated our guidance on supporting research staff development, for those supported by MRC funding. This helps postdocs prepare for the next step in becoming independent, as well as for holders of MRC awards to manage their time to include opportunities for developing and progressing.
We supported the implementation and review of the concordat for researcher development and have supported the Academy of Medical Science’s SUSTAIN programme since its inception. SUSTAIN has just recruited its third cohort, and the programme provides interactive skills training and career development sessions, tailored mentoring and the opportunity to network with research leaders.
We’ve also worked to remove barriers to research careers, removing years post-PhD as an eligibility criterion for all our schemes in 2015 – a move followed by many other funders – recognising that careers progress at different paces. Additionally, none of our schemes requires applicants to move institution (often used as a proxy measure for readiness to establish research independence in practice). Moving can create further unnecessary barriers for ECRs, many of whom are looking to negotiate transitions in their personal life as well as professionally.
In parallel, we’ve improved the provision of doctoral training through our Doctoral Training Partnerships (DTPs), ensuring training and experience is student-focused. At a workshop in autumn 2018 for DTP leads, the range of progress made in improving doctoral research training was exciting. Student-focused doctoral training and supporting ECRs in becoming supervisors and co-supervisors are not mutually exclusive and, as suggested at the workshop, we plan to include support and experience for ECR supervisors as metrics for future assessment of our DTPs.
More to do
We recognise that there remains much to be done. Our mechanisms offer a strong start for new principal investigators, with generous funding, protected time and prestige. But we know from our own researchers that they still face challenges negotiating this career phase.
We remain committed to supporting people flexibly through research careers, targeting critical stages, and identifying and addressing barriers to progression. And we want to ensure our funding supports ECRs in transitioning to longer-term positions. We’re also committed to increasing the diversity of individuals pursuing research careers by understanding ambitions and barriers, and plan to pilot interventions to promote and facilitate diversity over the coming year.
Our working life series and career inspirations podcast show how exciting a research career can be. We want to do our best, both to ensure no ECR we fund faces unnecessary barriers in pursuing their aspirations and to work in collaboration across the sector to recruit and retain talented individuals in science and academia.
The Medical Research Council (MRC) Centre for Drug Safety Science, based at the University of Liverpool, along with Sense about Science, have jointly launched a new animation: “10½ things you may not know about side effects.”
Developed following public workshops, the animation is designed to help people learn more about side effects - why they occur, how to manage them and how medicines can be made safer by reporting them.
The 10½ things highlighted include:
- Every medicine has side effects: All medicines have side effects but are tested to check that, for most people, the benefit of taking the medicine far outweighs the side effects.
- Giving medicines the yellow card: We can all help to improve drug safety by reporting side effects. Through the MHRA Yellow Card app we can report effects we, or those we care for, have experienced.
- Food can amplify side effects: Certain foods can compromise, reverse or amplify the effects of different medications. Grapefruit juice is well known for amplifying effects, leafy greens can reverse effects and there’s such a thing as the ‘cheese reaction’.
- Herbal supplements can interact with medicines: for example, St John’s Wort interacts with 903 medicines, 264 of them seriously.
- Some side effects are beneficial: Viagra started its life as a treatment for angina, then its beneficial side effect led to it becoming the world’s most successful treatment for impotence.
By raising awareness of side-effects and what can cause them, the MRC Centre for Drug Safety Science and Sense about Science hope that more people will report side effects and be better able to manage their health.
The animation and companion guide can both be downloaded by visiting www.liverpool.ac.uk/drug-safety/drug-safety/
Professor Sir Munir Pirmohamed, Director of the MRC Centre for Drug Safety Science, said: “Medicines have helped to treat or cure numerous diseases. Yet all medicines can cause side effects. Our research centre, funded by the Medical Research Council, studies these side effects. Our work aims to improve medicines for all, by developing strategies that can predict, prevent or diagnose harm from medicines, so that we and others can make them even more beneficial and safe.”
Rebecca Asher, Deputy Director at Sense about Science, said: “People are often surprised to discover that side effects are normal. Now we have longer life expectancy and some previously fatal conditions can be managed with medicines, the need for a common understanding of what’s meant by side effects, why they happen and what to do about them is urgent."
Jane Burns, who took part in the public workshop in Liverpool, said: “The animation is brilliant, really informative. It’s important that the public know that they need to tell their doctors everything that they are taking, even herbal products, so that they have all the information. Also, patients need to be aware that it’s ok to experience some side effects, as long as the benefits outweigh any minor discomfort.”
Mick Foy, group manager for MHRA’s Vigilance and Risk Management of Medicines division said: “Our priority, as regulator, is to make sure the medicines you and your family take are effective and acceptably safe. The reporting of suspected side effects is vital in helping us achieve this.
“Everyone, from healthcare professionals to patients themselves, can help make medicines safer by reporting any suspected side effects easily and quickly through our Yellow Card Scheme online or via the free mobile app.”
Cancer Research UK (CRUK) are focusing their efforts to help detect cancer earlier and significantly improve survival chances.
For most cancers, the earlier it is detected and treated, the better the outcome. Take colorectal cancer, patients diagnosed at stage 1 have over a 95% survival chance, whereas those diagnosed at stage 4 have less than 8% survival chance1 and significantly higher costs of care2. However strikingly, close to half of all cancers are diagnosed at a late stage in the UK and it’s become CRUK’s mission to drive change, support researchers in detecting cancer at the earliest possible stage, and increase survival chances. To help them achieve their ambitious goal to see three-quarters of people with cancer surviving the disease by 2034, they’ve launched a number of initiatives in this area.
To increase, encourage and support transformative cancer early detection research, CRUK has rolled out new funding specific for this field of research, including several new funding streams from £20,000 – £2.5 million. The funding committee encourages high-risk, disruptive research, as well as international and industry collaboration.
To drive innovation and novel ground-breaking research, CRUK has teamed up with EPSRC and STFC to hold a series of three-day Innovation Sandpit Workshops, where they bring together multidisciplinary researchers to develop new ideas and solutions for the biggest challenges facing the early detection of cancer field. Researchers with the best ideas walk away with £100,000 seed funding to commence the project.
CRUK is focusing on improving the translation of novel cancer diagnostics and technologies. They are actively encouraging collaboration with industry through their grants, and are connecting academics with commercial researchers through a number of mechanisms, including a series of networking events that are held in partnership with Innovate UK and the Knowledge Transfer Network.
Through the Early Detection of Cancer Conference, held in partnership with the Canary Centre at Stanford University and the Knight Cancer Institute at Oregon Health & Sciences University, CRUK is bringing together researchers working on cancer early detection from across the globe. The three-day event encompasses world-leading research, novel discoveries, scientific debate and plenty of networking. The next conference will be held on 24-26 September 2019 in San Francisco.
To unite the world’s brightest minds and drive game-changing research, CRUK is launching the International Cancer Early Detection (ICED) Alliance, a virtual research centre between six lead sites in the UK and the US. The Alliance will leverage key strengths at each site, driving novel collaborative research to accelerate progress in the field.
Finally, CRUK believes that it’s crucial to encourage and support the next generation of early detection researchers. To assist them, they’ve made the early detection of cancer a priority area for their Career Development Fellowship scheme.
1Cancer Research UK, https://www.cancerresearchuk.org/health-professional/cancer-statistics/statistics-by-cancer-type/bowel-cancer/survival#ref-3, Accessed January 2019.
2Cancer Research UK (2014), Saving lives, averting costs, Cancer Research UK.
NHS England’s Chair, Lord David Prior, has welcomed the appointment of one of the country’s leading experts in genetics and personalised medicine, based at the University of Liverpool, to the organisation’s board.
Professor Sir Munir Pirmohamed, who is based at the University’s Institute of Translational Medicine, has been appointed by the Secretary of State as a non-executive director of NHS England. Among other posts, he is the David Weatherall Chair of Medicine and NHS Chair of Pharmacogenetics at the University, and Director of the MRC Centre for Drug Safety Science and Wolfson Centre for Personalised Medicine. Professor Pirmohamed is also the Founder and Chair of the UK Pharmacogenetics & Stratified Medicine Network.
His work has seen him at the forefront of research into the personalisation and safety of medicines based on an individual’s genetic make-up, and he was awarded a Knighthood in the Queen’s birthday honours in June 2015 for services to Medicine.
Lord Prior, said: “The NHS stands on the brink of being able to harness the benefits of genomic research to provide ever-more precise a2nd safe treatment for patients with a wide range of conditions. The completion of the 100,000 Genomes project puts the UK at the leading edge of a fundamental breakthrough in medical science. How we incorporate genomic medicine into the NHS, and combine genomic data with NHS data to stimulate research into further tests and treatments, is the greatest opportunity in a generation to improve the health of people in England, and indeed the rest of the world.
“As one of the world’s leading experts in this field, Professor Pirmohamed will bring invaluable knowledge and expertise to the table as we seek to make the most of this opportunity, and deliver as much benefit to patients as possible.
“I look forward to working with him and other colleagues in the New Year, as we will also be working to translate the important ambitions which will be set out in the NHS Long Term Plan into real improvements for patients in every part of England.”
Professor Pirmohamed’s appointment takes effect from 1 January 2019, for a period of three years, and was made following the established process for appointments to public boards.
Health Secretary Matt Hancock has announced that the 100,000 Genomes Project, led by Genomics England in partnership with NHS England, has reached its goal of sequencing 100,000 whole genomes from NHS patients.
This ground-breaking programme was launched by then-Prime Minister David Cameron in 2012, with the goal of harnessing whole genome sequencing technology to uncover new diagnoses and improved treatments for patients with rare inherited diseases and cancer. The task was to make the UK a world leader within five years.
The 100,000 Genomes Project has delivered life-changing results for patients with one in four participants with rare diseases receiving a diagnosis for the first time, and providing potential actionable findings in up to half of cancer patients where there is an opportunity to take part in a clinical trial or to receive a targeted therapy.
To do this Genomics England worked with NHS England to create 13 NHS Genomic Medicine Centres (GMCs) to support the project, a state-of-the-art sequencing centre run by Illumina, Inc. and an automated analytics platform to return whole genome analyses to the NHS.
Genomics England and NHS England are extremely grateful to the 85,000 participants, 1,500 NHS staff, over 3,000 researchers, the National Institute for Health Research and the UK Government whose support and funding have been key to the success of this pioneering NHS transformation programme.
As a result the UK has become the first nation in the world to apply whole genome sequencing at scale in direct healthcare, as well as providing access to high quality de-identified clinical and genomic data for research aimed at improving patient outcomes.
The project has laid the foundations for a NHS Genomic Medicine Service, which will provide equitable access to genomic testing to patients across the NHS from 2019.
Health Secretary Matt Hancock said:
Sir John Chisholm, Chair of Genomics England, said:
Professor Mark Caulfield, Chief Scientist at Genomics England, said:
Professor Dame Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics at NHS England, said:
Jillian Hastings Ward, Chair of the National 100,000 Genomes Project Participant Panel, said:
Francis deSouza, President and CEO of Illumina, Inc., said:
James Fenton, Project Manager at the NIHR National Biosample Centre – the facility that stores and processes samples for the 100,000 Genomes Project – said:
Helomics, a personalised healthcare company whose mission is to improve the standard of care for cancer through innovative precision oncology products and boutique CRO services, and Genomics England announced today that Helomics has become a full Discovery Forum partner. Helomics will utilize the rich de-identified genomics and clinical data set for the 100,000 Genomes Project to further develop its artificial intelligence-based precision oncology platform for ovarian cancer.
The 100,000 Genomes Project is a groundbreaking initiative, sequencing whole genomes of National Health Service patients with rare diseases and their families, as well as patients with common cancers. The aim is to transform healthcare through new diagnoses and personalized treatments. The Precision Medicine Market is set to exceed USD 96 billion by 2024; according to a research report by Global Market Insights, Inc. Helomics continues to be an innovative precision medicine company that will continue to show growth in this robust market in 2019 and beyond.
“We are excited to partner with Genomics England and gain access to the rich, de-identified, genomic and clinical data of the 100,000 Genomes Project. We intend to apply our state-of-the-art machine learning to this dataset to expand the capabilities of our precision oncology platform, which helps oncologists offer individualized treatment options for ovarian cancer patients. We anticipate this to be the first of several projects, leading ultimately to bringing the benefits of Helomics precision oncology to ovarian cancer patients within the NHS,” commented Gerald Vardzel, President and CEO of Helomics Corp.
Expanding on the scientific goals of the project, Dr. Mark Collins, VP of Innovation and Strategy at Helomics, said:
Commenting on the new Discovery Forum Partner, Joanne Hackett, Chief Commercial Officer of Genomics England, said:
Genomics England has chosen Congenica as its Clinical Decision Support Service partner to help deliver the new NHS Genomic Medicine Service, which rolls out this month.
The decision follows a competitive tender process involving the leading providers of genomic diagnostic decision support. Congenica’s SapientiaTM platform was selected using robust criteria that included usability, clinical accuracy, case throughput and commercial value.
SapientiaTM has already been validated within Genomics England’s 100,000 Genomes Project and will help clinicians, scientists and researchers to make informed medical decisions – generating actionable clinical reports.
Professor John Mattick, Chief Executive of Genomics England, said:
Read more on Congenica’s website.
Now more than ever, genomics is applicable across all areas of medicine and healthcare. Improved technologies, increased understanding of genomic data, and the increased availability and affordability of testing have resulted in changes to the way in which patients and their families are treated and cared for. As genomics becomes embedded into routine care, consultants and nurses in each specialty, as well as the specialist genetics workforce, need to have an understanding of the application of genomics in their practice.
The Genomics Education Programme's "Genomics in Medical Specialties" series has been developed in collaboration with champions of genomics from a range of disciplines to provide key facts and useful information.
PHG Foundation has spent 21 years working with you to make science work for health. We're proud of our achievements so far, but there is plenty still to be done to ensure fast-moving science delivers timely health benefits for patients and citizens.
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IQVIA™ (NYSE:IQV) and Genomics England have announced a collaboration to develop a platform that will connect clinical and de-identified genomics data to accelerate treatment advancements for patients. This alliance will enable faster and more efficient drug research, more robust evidence to support treatment value, and greater access to personalized medicines.
Using IQVIA’s E360™ platform, authorized researchers will have privacy-protected, technology-enabled access to Genomics England’s patient-consented, de-identified data to create custom clinical-genomic datasets and run leading-edge analytics on genomics and observable traits.
Combining IQVIA’s leading real-world technologies and services experts with Genomics England’s datasets, network and infrastructure to generate, organize, and enhance genomic data, can make the United Kingdom one of the most attractive places for life sciences companies to invest. The deeper insights about patient populations and faster ability to understand the value of potential treatments could also make the UK a catalyst for analytic and scientific advances.
“IQVIA brings together deep healthcare and life sciences domain expertise to manage and curate real-world data with advanced analytical technologies. Working together, we can unlock the potential of these datasets to advance research and benefit patients in the UK as well as those throughout the world,” said Joanne Hackett, Genomics England’s, chief commercial officer.
Together, IQVIA and Genomics England will enable academic and commercial customers to conduct a wide range of research including: association studies of genomics and observable traits, comparative efficacy and safety trials, and burden-of-illness and discovery analytics using the de-identified data in a secure environment that protects patients’ privacy. Life sciences companies that use IQVIA’s leading clinical and observational research will be able to provide genomic testing to patients in parallel or as part of their clinical programs. This will help advance precision medicine and patients’ access to novel therapies – with the goal of delivering the right drugs to the right patients at the right time.
“Drawing insights from clinical-genomics datasets is the future of real-world research, and we are delighted to work alongside Genomics England as a pioneer in this evolving field,” said Jon Resnick, president, IQVIA Real-World and Analytics Solutions. “Our collaboration advances the analysis of these complex datasets, which could accelerate the discovery of precision therapies, improve access and health outcomes, and deliver upon our Human Data Science vision.”
Practices have an opportunity to gain useful feedback to help improve patient care, contribute to medical research and earn extra income by joining Clinical Practice Research Datalink (CPRD).
More than 1100 GP practices already take part, contributing anonymised data which is used in vital drug and vaccine studies such as proving the safety of the whooping cough vaccination during pregnancy.
For 30 years, GP practices across the UK have contributed de-identified data to CPRD.
A key benefit of joining is receiving regular practice-level prescribing and patient safety quality improvement reports, which help GPs to review patient care. Case review from QI reports can be used in annual appraisals. Practices can also earn extra money by completing questionnaires and taking part in clinical trials, and contributing data ensures your patients are represented in research evidence that informs national clinical guidance and best practice.
You can find out more about the benefits at www.cprd.com/generalpractitioner
Joining CPRD is free and simple.
Please click this link through to the short joining form:
The Health and Social Care Secretary has announced an ambition to sequence 5 million genomes in the UK over the next 5 years.
Where relevant, patients will be asked to give consent for their genome data to be securely analysed by approved researchers, who will develop new tests and treatments for cancer and rare diseases.
From 2019, all seriously ill children will be offered whole genome sequencing as part of their care.
Adults with certain rare diseases or hard-to-treat cancers will also be offered the same option from 2019.
The NHS Genomic Medicine Service will expand on existing projects such as the 100,000 Genomes Project and see 1 million whole genomes being sequenced by the NHS and medical research project UK Biobank in 5 years.
This will help support Matt Hancock’s wider ambition to sequence 5 million genomes in the UK by bringing together expertise from world-leading industry experts such as UK Research and Innovation, the NHS and other partners.
At present, it can take years to diagnose a rare disease, but genomics has the potential to speed this up and reduce the number of invasive tests that patients currently have to undergo.
The more genetic information there is, the earlier clinicians can predict, diagnose and treat the illness in a way that works best for each patient.
Health and Social Care Secretary Matt Hancock said:
I’m proud to announce we are expanding our 100,000 Genomes Project so that one million whole genomes will now be sequenced by the NHS and the UK Biobank.
I’m incredibly excited about the potential for this type of technology to improve the diagnosis and treatment for patients to help people live longer, healthier lives – a vital part of our long-term plan for the NHS.
Today’s commitments form part of our bold aspiration to sequence 5 million genomes in the UK, using ground-breaking technology to do this within an unprecedented 5-year period.
The National Health Service in England has announced two new innovator programs to accelerate the use of digital health tools that benefit patients and remove barriers slowing adoption of innovation.
NHS England is funding a small number of proven innovations through the Innovation Technology Payment (ITP) 2019/20, part of a wider effort led in collaboration with the country's Academic Health Science Networks.
Solutions eligible for the programme have to be used in at least three NHS sites and demonstrate the potential for a return on investment within a year of deployment.
A PUBLIC report published earlier this year, authored by former Health Minister Nicola Blackwood, found that partial interoperability and poor procurement practices were some of the key hurdles to selling new tech into the NHS, making the health service a 'challenging digital terrain'.
Recent innovations selected to take part in the ITP scheme include the HeartFlow FFRct (fractional flow reserve) Analysis technology from California-based company HeartFlow, which uses data from CT scans to create a personalised 3D model of the coronary arteries and then analyse the impact of blockages on blood flow to help clinicians diagnose coronary artery disease by eliminating the need for patients to undergo invasive procedures.
Applications are also open for the 4th call of the NHS Innovation Accelerator (NIA), providing bespoke support, aimed at innovators whose solutions are addressing one or more of the following priorities: prevention and early diagnosis, mental health, and primary care.
“These two programmes will allow exciting innovations to flourish and spread as NHS England is once again prepared to support innovators and foot the bill for a select group of products so patients can benefit faster,” said Professor Tony Young, NHS England National Clinical Lead for Innovation.
Innovations supported through the last round of the NIA include Healthy.io’s Dip.io tool, a home-based urinalysis kit that turns a smartphone into a clinical-grade diagnostic device.
The start-up, which recently received FDA 510(k) clearance for Dip.io, announced in June that it was partnering with the UK's Salford Royal NHS Foundation Trust in a project known as the ‘virtual renal clinic’.
“Technology has the potential to transform healthcare and we must do all we can to break down the barriers that prevent patients from accessing the best possible treatment," added Health Minister Lord O'Shaughnessy.
Supported by two clusters with a focus on digital and medical activities and backed by industry groups and over 45 innovative companies, the Hu-PreciMED project will gear the French precision medicine industry towards discovering new diagnostic approaches and novel therapeutic treatments more rapidly.
Medicen Paris Region and Cap Digital, two competitiveness clusters from the Greater Paris region, have announced that they are rallying their members to support the Hu-PreciMED project (Human Precision MEDicine) in order to structure the precision medicine industry in France. The project was jointly launched by Oncodesign, Servier and Intersystems. With more than 45 innovative digital and medical companies already participating, Hu-PreciMED aims to bring together all public and private players working in the field of precision medicine and connect them efficiently to medical data from patients. This is important in order to improve available therapeutic and diagnostic tools, as well as to develop new predictive and preventive medical approaches; all the while building on the latest progress in Big Data and Artificial Intelligence.
Precision medicine relies on the analysis of molecular and genetic characteristics to allow individualized or personalized treatment and monitoring of patients. It is a booming global market, expected to reach $96 billion by 2024. This area of research is seen as key for the pharmaceutical industry to develop new therapeutic solutions and for patient care. Other criteria for organizations involved in this flourishing market include anticipating scientific, technological, regulatory, economic, ethical and digital developments. The precision medicine industry also requires support for patient data generation and easy access to this data.
The project consists of three main areas, each led by one of the three coordinators. Intersystems will focus on "target resolution", using patient data to identify subgroups in order to adapt treatments or discover new therapeutic targets. Servier will take care of "investigating new molecules", new therapeutic targets making it possible to identify biomarkers and to create and produce new compounds. Oncodesign will lead the third area with preclinical and clinical development of new drugs associated with biomarkers. To accomplish this project, two digital platforms will be set up, one for the integration of multi-source data and the other for data analysis.
The 45 public and private organizations already working on the project include the Paris Hospitals (AP-HP), the Transimmunom and Inflamex Laboratories of Excellence (LabEx), the Lille University Hospital and the Frédéric-Joliot Institute for Life Sciences – CEA. While all therapeutic areas will be addressed, the pilot phase will focus on immuno-inflammatory diseases, which affect 5-7 per cent of the Western population and for which cohorts of referenced patients already exist or can be generated. The goal will be to identify the most relevant targets and to provide guidance for new drug development.
The project has a total of four phases and will run until 2023. The first phase runs until January 2019 and will focus on the design and development of the project. Between 2019 and 2020, the coordinators plan to develop and organize the industrial sector, before moving to a consolidation phase between 2020 and 2023, with more emphasis on business development. The final phase will run in 2022 and 2023, aimed at widening the range of addressed pathologies as well as geographical reach through international partnerships. The project was initially funded by the three industrial coordinators. Plans for further funding will aim primarily at the European level.
"The Hu-PreciMED project has taken shape thanks to the Medicen and Cap Digital clusters, which are deeply rooted in the French technology ecosystem, and have served as neutral and trustworthy third parties. They will continue to have a pivotal role in coordinating the collaborations and giving the project members access to their networks and their work methodology," said Philippe Genne, CEO of Oncodesign and vice president of the Medicen SME body, speaking on behalf of the three companies driving the project. "The call for interest was initiated last July, following the preview of the "Health Data Hub" project launched by French Health Minister Agnès Buzyn in June 2018. It showed that French organizations from this sector are very interested in this approach. By joining forces, we will be able to reach a critical mass and rely on French scientific excellence to shine internationally."
About Cap Digital
Cap Digital is a competitiveness cluster for digital transformation and ecological transition established in 2006. Its 1000+ members include over 850 SMEs, more than 70 corporations, medium-sized companies and state-controlled entities of an industrial or commercial nature, along with more than 70 major universities, higher education establishments and research labs, and 12 capital investors. Cap Digital is working to make the Paris region a digital world leader, both in industrial and strategic terms. Its roles include R&D, corporate growth, the networking of its members and their international promotion, with a view to boosting the creativity and competitiveness of this major industrial sector. With 2,650 R&D projects submitted since 2006, of which 1,350 are accredited and 750 funded, Cap Digital has supported more than €1.6 billion of investment in research and development since its creation, including more than €670 million in public grants. In 2017, the cluster’s businesses raised €890 million including €244 million through Fast Track services. Cap Digital organizes the Futur.e.s festival, an annual global event for movers and shakers in the fields of design, innovation and the digital economy wishing to meet and present, discuss, express and share their vision of the future with the general public. Cap Digital created EdFab, an innovation space for training, education and occupational transformatio. In May 2018, the members of Cap Digital, meeting in general assembly, formalized the integration of Advancity’s activities, thus creating the first European pole for sustainable cities and ecological transition. www.capdigital.com - www.futur-en-seine.paris - www.edfab.fr
About Medicen Paris Region
Medicen Paris Region is a competitiveness cluster for innovative health technologies, with national and international scope. With more than 400 companies, research centers, universities, hospitals and local authorities as members, it aims to position the Paris region as Europe’s leading healthcare cluster. It focuses on five strategic areas: biological diagnostics, diagnostic and interventional imaging, regenerative medicine and biomaterials, digital health and translational medicine. In close collaboration with local, regional and national healthcare innovation players, Medicen Paris Region aims to:
- Foster the emergence, development and funding of certified collaborative projects in the healthcare sector, in order to create economic value and jobs
- Increase the international development of innovative startups and SMEs
- Strengthen the attractiveness of the Paris region, which represents more than 50% of life sciences activity in France
Since the creation of the cluster in 2005, 68 innovative products have been launched in the imaging, medical devices and biological tools sectors. The cluster has certified 302 projects. They received funding from the French government (French Inter-Ministry Fund FUI, Structuring Projects fund), the public investment bank Bpifrance, the National Research Agency, the European Regional Development Fund, the Investments for the Future program and/or local authorities, and the Paris region. Total investment is close to €1.9 billion ($2.3bn) and €533 million ($635M) of public aid. www.medicen.org
Founded over 20 years ago by Dr Philippe Genne, the company’s CEO and chairman, Oncodesign is a biopharma company dedicated to precision medicine. With its unique experience acquired by working with more than 600 clients, including the world’s largest pharmaceutical companies, along with its comprehensive technological platform combining state-of-the-art medicinal chemistry, pharmacology, regulated bioanalysis and medical imaging, Oncodesign is able to predict and identify, at a very early stage, each molecule's therapeutic usefulness and potential to become an effective drug. Applied to kinase inhibitors, which represent a market estimated at over $46 billion in 2016 and accounting for almost 25% of the pharmaceutical industry’s R&D expenditure, Oncodesign’s technology has already enabled the targeting of several promising molecules with substantial therapeutic potential, in oncology and elsewhere, along with partnerships with pharmaceutical groups such as Bristol-Myers Squibb and UCB. Oncodesign is based in Dijon, France, in the heart of the town’s university and hospital hub, and within the Paris-Saclay cluster, Oncodesign has 227 employees and subsidiaries in Canada and the USA.
Servier is an international pharmaceutical company governed by a non-profit foundation, with its headquarters in France (Suresnes). With a strong international presence in 149 countries and a turnover of 4.152 billion euros in 2017, Servier employs 21,700 people worldwide. Entirely independent, the Group reinvests 25% of its turnover (excluding generic drugs) in research and development and uses all its profits for development. Corporate growth is driven by Servier’s constant search for innovation in five areas of excellence: cardiovascular, immune-inflammatory and neuropsychiatric diseases, cancer and diabetes, as well as by its activities in high-quality generic drugs. Servier also offers eHealth solutions beyond drug development. More information: www.servier.com
A new study led by the University of Oxford-based CRyPTIC consortium, working with Genomics England, Public Health England and the NIHR, reveals new opportunities for personalised medicine in the treatment of tuberculosis (TB).
The study, ‘Prediction of Susceptibility to First-Line Tuberculosis Drugs by DNA Sequencing’, demonstrates much greater accuracy in predicting the susceptibility of the bacterium to anti-TB drugs than had been expected. This more detailed understanding of TB’s genetic code now allows researchers to predict which commonly used anti-TB drugs are best for treating a patient’s infection and which are not.
Genomics England Chief Scientist, Professor Mark Caulfield, said:
Lead investigator, Dr Tim Walker, Academic Clinical Lecturer in Microbiology and Infectious Diseases at the University of Oxford’s Nuffield Department of Medicine, said:
The paper was published on 26 September in the New England Journal of Medicine, with its findings announced at the United Nations General Assembly high-level meeting on tuberculosis.
Derived from proteins made by the body’s immune system, monoclonal antibodies are successful drugs used to treat millions of patients. The MRC/UCB Antibody Discovery Initiative offers academic researchers access to UCB’s high-tech antibody discovery platform. Andrew Popplewell, Head of Antibody Discovery and Engineering at UCB Celltech, explains how the initiative is geared to help promote collaborative research.
"Typically, the academic scientists offer in-depth knowledge and expertise in an area of biology or for a drug target – a molecule in the body with which the drug specifically interacts leading to a therapeutic effect. The biotech or pharma company provides funding and resources, their experience of drug discovery and access to equipment and facilities.
"In the case of the MRC/UCB Antibody Discovery Initiative, we offer academic researchers access to UCB’s antibody discovery platform. This provides a fantastic opportunity for an academic researcher to work with our antibody technology team. They’ll work together to find therapeutic antibodies, or reagent antibodies, to test in disease models.
"For scientists in academia, such schemes can provide the chance to see, first-hand, how things operate in industry. They enable researchers to better understand some of the different challenges faced by industry. And they provide the opportunity to move work towards the clinic, where it could benefit patients."
Public Health England (PHE) has published a report on the implementation of their central whole genome sequencing (WGS) service and its impact on the investigation and management of infectious diseases.
Implementing pathogen genomics: a case study outlines the development process undertaken by PHE to establish the central WGS service and the transformation of a national bacteriology reference laboratory into a genomics-led service. The report was developed and produced by PHG Foundation.
Pathogen genomics is a powerful approach to reducing the number of people who become ill from foodborne diseases such as Salmonella and E. coli and Listeria. Instead of multiple techniques that require a broad array of equipment and expertise, WGS can collect crucial microbiological information using a single technique. Other benefits are a more comprehensive set of information, improved health and safety and a reduction in animal use.
Dr Kathie Grant – said “As an early adopter of pathogen genomics the Gastrointestinal Bacteria Reference Unit at PHE Colindale has seen a transformation to more streamlined laboratory processes and game changing improvements to outbreak investigations. We hope publication of this case study will help inform others seeking to establish or deploy pathogen WGS services.”
The report is free to download from gov.uk
The September 2018 edition of Bioscience Today features a fascinating article on the UK Pharmacogenetics & Stratified Medicine Network.
Cancer Research UK held a FORUM Workshop with the Academy of Medical Sciences in February 2018. Over 60 participants were welcomed to this multidisciplinary event, including representation from academia, industry, patients, regulators, funders, commissioners and healthcare professionals.
The outcomes from the workshop include:
- To improve the evidence generation of early detection and diagnosis research:
- We need a national repository of longitudinal samples linked to clinical data, to be made available for the discovery and validation of novel diagnostic assays.
- Researchers should develop ‘target product profiles’ for emerging technologies to ensure there is a clear clinical need, defined performance and health economic characteristics.
- To support the planning and delivery of clinical trials for diagnostics, we need infrastructure for the clinical evaluation of diagnostic tests to provide a stable platform of expertise to accelerate progression to the clinic, equivalent to a Clinical Trials Unit (CTU).
- To improve the outcomes of screening trials, researchers should risk-stratify populations to increase surveillance of those that benefit from it and decrease surveillance of those that do not.
- We need health service planners to recognise the real cost-saving benefits of early detection and diagnostic technologies, which are often only evident over a long term, when assessing the economic rationale for adoption of new diagnostics.
- We need a system change in the NHS to focus more on early detection and diagnosis, rather than treatment, in order to fully capitalise on the disruptive potential of novel cancer diagnostic technologies.
- We need a roadmap for the translation of early detection and diagnosis tests, as a resource to support researchers through the various stages, and guidelines for evidence generation, diagnostic development, clinical evaluation, and economic viability.
Faster development of new treatments for diseases like cancer, heart disease and asthma are set to emerge following a £37.5 million investment in new Digital Innovation Hubs across the UK.
The new hubs will help connect regional health and care data with biomedical data in secure environments. This will pave the way for NHS, academic researchers and industry innovators to harness scientific knowledge and emerging technologies to develop new drugs and devices and improve health services.
Funded through the Industrial Strategy Challenge Fund, the Digital Innovation Hubs will be led by Health Data Research UK (HDR UK), the national institute for data science in health, delivering on behalf of UK Research and Innovation.
Between three and five hubs will be created across the UK over the next three years to enable innovation that will have a long-lasting impact on improving the health of the public. The hubs will provide safe, secure and controlled environments for data and enable NHS clinicians to work together with health researchers, data scientists, computer scientists, ethicists, social scientists and the public.
The Digital Innovation Hubs will securely and safely connect data across regions of 3-5 million people and create an accessible layer of data from GP practices, hospitals, social and community care providers, alongside genetic and biomedical information and other datasets for research and innovation. Combined with the unique research expertise across UK universities and industry, this initiative offers an unprecedented opportunity to use data to improve the long-term health of the public. It will also create new jobs in the UK’s life sciences economy, drive medical innovation and ensure that NHS patients benefit from new treatments first.
HDR UK will work in partnership to establish the hubs and ensure data is used responsibly and ethically to benefit society. The hubs will follow the strict safeguards underpinning health data security and access as set by UK regulatory bodies and will be transparent in how and why data is used, stored and shared.
Safe, secure and trusted use of health data has a long track record of enhancing public health and facilitating innovative research. High profile examples include:
revealing the indisputable link between the effects of air pollution and smoking on developing lung cancer and heart disease;
discovering new genetic causes of disease that allows tailored treatments in cancer, arthritis and asthma;
reducing life-threatening complications of diabetes such as amputation and blindness, whilst shedding light on the genetic causes of disease.
The UK has some of the richest health data of anywhere in the world. However, these datasets across health, care, genomics and biomedicine are fragmented making it difficult, sometimes impossible, to access and use for research purposes. This causes delays and, in some cases, prevents accredited researchers and industry innovators from analysing data to help deliver better care and improve health for patients, society and for future generations.
The Digital Innovation Hubs programme will launch this Autumn with HDR UK seeking, and learning from, local examples of research partnerships that are already working in practice. These ‘demonstrator projects’ will test approaches that will inform the design and delivery of the Digital Innovation Hubs. Following this, in Spring 2019, HDR UK will invite regional partnerships of NHS, academia and industry to bid to establish a Digital Innovation Hub.
The hubs will complement other initiatives across the UK, including the NHS’ Local Health and Care Record Exemplar programme, which is joining up local health and care data for individual care and planning purposes, and the work of NHS Digital to create a Data Services Platform.
The Digital Innovation Hubs programme is part of the Industrial Strategy Challenge Fund Wave 2 £210 million ‘Data to Early Diagnosis and Precision Medicine’ theme. Closely related investments within this theme include:
Genome sequencing using UK Biobank volunteers, and
A network of up to six Centres of Excellence in digital pathology and imaging, including radiology.
As the NHS celebrates its 70th birthday, Genomics England announces that it has now passed the 70,000 genomes mark. This milestone comes just five months after the 100,000 Genomes Project reached its halfway point – signalling that it is well on track to reach its goal of 100,000 genomes by the end of this year.
Genomics England has worked with the NHS to create the biggest national genome sequencing project of its kind in the world. It has provided the evidence NHS England needs to embed genome sequencing in routine care through the new Genomic Medicine Service (GMS). Rolling out in October 2018, the GMS will help to ensure that the NHS stays at the forefront of healthcare delivery – now and in the future.
The groundbreaking 100,000 Genomes Project focuses on patients with rare diseases, their families, and patients with cancer. Working with sequencing partner, Illumina, Genomics England has now sequenced a total of 71,095 genomes.
Beyond 2018, Genomics England will continue to support the NHS GMS, acting as a testbed for new applications, encouraging discoveries and their translation into novel medicines and treatments, as well as working to support a thriving genomic medicine industry in the UK.
Health Minister Lord O’Shaughnessy said: “Genetic sequencing can revolutionise healthcare by offering truly personalised care to patients and their families.
“This project is a shining example of a partnership between the public sector, the life sciences industry and the research community – with NHS patients reaping the benefits.
“Genomic medicine is no longer a thing of the future, it’s here now and helping to save lives.”
Genomics England’s CEO, Professor John Mattick, said: “Genomics England’s mission is to realise the enormous potential of genomic information to enable precision medicine. As the technology and our understanding continue to grow over the coming years, we will provide genome analyses to inform personalised treatments and preventative actions tailored to individual circumstances, to ensure the best healthcare for our patients and generations to come.”
Professor Dame Sue Hill, Chief Scientific Officer for England, who is leading the NHS Genomics programme, said: “I’m delighted the Project has reached the 70,000 sequence mark in the week of the 70th Birthday of the National Health Service. The NHS has harnessed cutting-edge science and technology through the Project to deliver real benefits for patients with rare diseases and cancer and in the growing field of genomics and health we are, once more, building a world-leading service that is admired and respected across the globe.
“Reaching the 70,000 mark has been possible because of the contribution and support of all the patients and families involved and driven by the tremendous work done by the dedicated teams across the NHS in our Genomic Medicine Centres in providing the highest quality samples and data as part of routine care.”
Professor Mark Caulfield, Chief Scientist at Genomics England, said: “Genomics England was set up five years ago during the 65th celebrations of the NHS. The 100,000 Genomes Project is ground-breaking and on the 70th anniversary of the NHS it is amazing that we have now sequenced over 70,000 genomes from participants with rare disease and cancer – and we are grateful to everyone who has generously taken part in the Project. It has already changed the lives of many patients with cancer or a rare disease in the UK, and now this programme will expand to further transform genomic health in the NHS with improved outcomes for many more.”
The UK NHS National Institute for Health Research in June 2018 have offered Professor Bill Newman an Invention for Innovation programme grant to work with Genedrive plc to develop and implement a point-of-care test in the NHS to avoid antibiotic-related hearing loss in newborn children.
Due to an identified genetic predisposition, certain individuals develop irreversible hearing loss when exposed to gentamicin, an antibiotic used to treat several types of bacterial infections. In the UK, approximately 90,000 babies per year are treated with gentamicin on intensive care units. Antibiotic treatment should start within the first hour after admission, but current lab-based genetic tests are not able to return actionable results within that timeframe. A Genedrive® test is targeted to allow genetic results to be available within an hour, allowing alternative antibiotics to be used and thus avoiding the potential life changing adverse reaction to gentamicin. The project is expected to commence immediately, with an expected development phase of one year followed by a trial implementation phase in selected NHS hospitals in year two. The Company will then target the release of a Genedrive® test within the NHS and more broadly. The consortium will be led by William Newman, Professor of Translational Genomic Medicine at the University of Manchester and Consultant at Manchester University NHS Foundation Trust. The team includes partners from Liverpool and Manchester Neonatal Intensive Care Units and is working closely with parents of children previously treated on intensive care units. Professor William Newman said: "We look forward to working with genedrive and our colleagues in Manchester and Liverpool to assess the impact of rapid genetic testing as a method of avoiding irreversible hearing loss in babies treated with antibiotics. Successful implementation would be a first in the integration of a rapid decision making, genetic-based diagnostic in the UK NHS." David Budd, Chief Executive Officer of genedrive plc, said: "The application of Genedrive® in an urgent healthcare setting is an excellent example of how a rapid, affordable, point-of-care test could impact patients' treatment and quality of life. The NHS is a huge market place and, if adopted, this would be the first placement of Genedrive® in a developed world healthcare setting.
Nightingale Health, the Finnish innovator of an internationally recognized blood biomarker technology for studying chronic diseases, will analyse the biomarker profiles of 500,000 blood samples from UK Biobank. The ground-breaking research initiative was announced today at the UK Biobank Scientific Conference 2018 in London.
Nightingale's biomarker profiling technology will be used to analyse UK Biobank blood samples by measuring metabolic biomarkers that recent studies have found are predictive of future risk for heart disease, type 2 diabetes and many other common chronic diseases. Until recently, technological constraints and prohibitive costs have prevented the analysis of comprehensive metabolic data from large-scale biobank collections, but this process has been made viable by Nightingale's technology, which measures over 200 metabolic biomarkers in a single blood test.
This initiative will further enrich the world's most detailed public health database provided by the UK Biobank.
Professor Sir Rory Collins, UK Biobank's Principal Investigator, said the commitment by Nightingale to perform these assays would allow researchers around the world to advance health research more quickly. He expects the combination of these biomarker data with the detailed health information that participants have already provided to generate many new insights. "We are delighted to see these novel blood sample analyses being done in UK Biobank," said Professor Collins. "We already have an enormous amount of information about the lifestyles and genetic make-up of the participants in UK Biobank, as well as about their health, and are currently conducting imaging studies of their brains, hearts and bodies. Providing the medical research community with these additional high quality metabolic biomarker data on such a large scale will enhance discovery science and population science, providing opportunities to benefit patient care and public health."
"Analysing 500,000 blood samples from a single study with Nightingale's comprehensive biomarker profiling technology allows us to uncover metabolic signatures that reflect a risk for future disease onset, as well as their underlying risk factors. We anticipate this detailed molecular readout of the health state, combining both lifestyle and genetic makeup, will result in a wealth of scientific applications from the research community. This will be relevant not only to the British population but also yield ground-breaking science and enhanced drug development opportunities with a global public health impact," said Dr. Peter Würtz, Scientific Director and Founder, Nightingale Health.
Nightingale Health's technology has been previously used to analyse more than 500,000 blood samples from over 200 cohort studies and clinical trials around the globe, with more than 150 peer-reviewed publications showcasing how the detailed metabolic biomarker data provide novel insights into health and disease.
"Nightingale's mission is strongly linked to scientific evidence generation. This means working with world-leading institutions and biosample collections to continuously improve the understanding of health and disease. Our aim is to translate this understanding into improved early prediction of diabetes and cardiovascular diseases, achieving better healthcare for everyone. Our initiative with the UK Biobank demonstrates Nightingale's unwavering commitment towards supporting innovative medical science carried out by researchers from across the world," said Teemu Suna, CEO and Founder, Nightingale Health.
The initiative corresponds to over 10 million EUR investment in UK Biobank and will be funded by Nightingale Health, with analyses of UK Biobank samples being performed at Nightingale's laboratory in Finland. In line with the founding principles of the UK Biobank, this metabolomic data will be incorporated back into the UK Biobank's resource following a 9 months exclusivity period for Nightingale Health and made openly available to the scientific community.
The Medicines Discovery Catapult and BioIndustry Association call on the R&D community to address five themes to help boost productivity
This report, based on surveys and over 100 in-depth interviews with senior executives of UK drug discovery companies, shows that global R&D productivity is under unprecedented pressure. In response to this, world leading opportunities exist for the UK to reshape the medicines discovery process to develop medicines greatly needed by patients. The report highlights that:
- Global R&D productivity is under unprecedented pressure
- The model of medicines R&D must be radically reshaped to meet patient needs
- A key problem is reliance on using inadequate models for human diseases
- Commercialising emerging technology will require new models of collaboration
- Data science is now indispensable to medicines R&D: research data is now generated in such high volumes that the ability to harness it has become a critical factor in developing new medicines
- It is imperative for the UK to provide industry with straightforward, well-governed access to consented patient data and human tissue samples – this is an acute problem for SMEs
Read the press release on the launch of State of the Discovery Nation 2018.
Research commissioned by Innovate UK and the British In Vitro Diagnostics Association (BIVDA) reveals that the NHS could save over £6.9 billion in five years through quick adoption of new diagnostic tests as they come onto the market. In turn, these savings could help tackle the annual NHS shortfall, widely expected to reach £20 billion by 2022.
Patients would benefit from three new tests – for heart attack, pre-eclampsia and inflammatory bowel disease – by reducing unnecessary procedures and medication while delivering significant NHS savings.
At the moment, the tests are used in only a handful of clinics and hospitals, although many health experts predict they would save huge sums if used more widely.
Doris-Ann Williams, BIVDA’s Chief Executive, said, “Whilst the shakeup of NHS services and funding so often takes the headlines, simply making the most of the tests we already have would result in dramatic savings.”
The report calls on healthcare leaders and policy makers to reassess how these three high-impact examples, along with many other diagnostic technologies available now, could be better deployed within the NHS.
Innovate UK is currently delivering the ‘From Data to Early Diagnosis and Precision Medicine’ Industrial Strategy Challenge Fund (ISCF), investing in new technologies which diagnose disease earlier and reduce patient suffering.
Dr Kath Mackay, Innovate UK Interim Director for Ageing Society, Health & Nutrition, said: “There are so many innovative diagnostic tests on the market and in development. It’s important for all stakeholders that we take every opportunity to rapidly adopt tests which show cost savings and benefit to patients.”
The General Data Protection Regulation (GDPR) and Data Protection Act 2018 came into force on 25 May 2018 in the UK. The MRC has published resources to explain the new requirements as they relate to research. The MRC GDPR guidance notes have been developed in consultation with the Information Commissioner’s Office (ICO). Click here to visit the MRC GDPR resources page.
UK organisations can apply for a share of up to £50 million through a funding competition to develop a network of centres of excellence in digital pathology and medical imaging technology.
This competition is part of the Industrial Strategy Challenge Fund in the challenge area: from data to early diagnosis and precision medicine.
The funding – which is provided by UK Research and Innovation and delivered by Innovate UK – will maximise the UK’s potential to diagnose diseases earlier and identify the best interventions for patients, as well as developing new treatments.
One of the activities in this challenge focuses on digital pathology, radiology and diagnostics. It will help to advance the digitisation of these important areas of diagnosis, increase the efficiency and quality of the review process and get new precision treatments to patients earlier.
In this competition we are seeking to establish up to 6 centres that specialise in digital pathology, medical imaging or both. These centres will be based across the UK and will be expected to work together through a framework agreement.
Applications should focus on how they can add value to existing processes using digital systems, enhanced analytics and artificial intelligence.
They should address common themes facing the healthcare sector including standardisation, data sharing and interoperability, regulation and scale up.
We are particularly encouraging applications that:
- allow access to the centres by clinical and non-clinical investigators
- support micro, small and medium-sized enterprises
- use large-scale, well-archived and annotated digital images
- illustrate how the centre will link digital image analyses with other forms of diagnostic information to achieve new medical insights
- consider and address the social, behavioural and economic implications in change management
Successful centres must commit to:
- supporting data sharing and interoperability across platforms and systems to allow seamless access to digital image repositories
- making available advanced data storage and analytical environments that are capable of managing large numbers of digital images and their associated data
- gaining public trust through best practice compliance with data security, privacy and ethical standards
- the competition is open, and the deadline for applications is at midday on 1 August 2018
- a UK-based business, NHS organisation or trust, hospital, research organisation, charity or Academic Health Science Network can lead a project, working in collaboration with others
- at least 2 organisations must apply per grant award
- total project costs should be between £14 million and £20 million
- businesses could attract up to 70% of their eligible costs
- applications that meet the quality threshold will be invited to interview in September 2018
- a briefing event will be held on 15 June 2018
Mapping the Landscape of UK Health Data Research and Innovation is a new landmark report published by the Medical Research Council. The report highlights the complex and flourishing area of health data research in the UK, detailing key activities and major investments made by UK public funders, government, charities and universities from across the country.
Commissioned in 2017, the review provides a unique window into major investments made by 26 research organisations, and informed the establishment of the new national institute - Health Data Research – whose mission is to make game-changing improvements in the health of patients and populations through data science research and innovation. The report acts as an important benchmark to help inform funder strategy, prevent duplication of effort and encourage collaboration in the informatics sector, both within the field and for external stakeholders.
Dr Rob Buckle, Chief Science Officer at the Medical Research Council said: “This report is snapshot of activity at a particular point in time in a very fast moving sector but is a great resource for organisations looking to fund, research or collaborate in this area. It will help stop us reinventing the wheel, plug research gaps and inform an ambitious future research strategy.
"What’s more, it highlights what a diverse and exciting area health data research is. This sector is thriving and in addition to its importance for promoting health and wellbeing, has huge potential to help deliver the UK Industrial Strategy, making the UK a global leader of the industries of the future.”
Early detection research seeks to enable the detection of cancer, or pre-cancerous states, at the earliest possible time point at which an intervention might be made.
The Early Detection Research Committee is responsible for the oversight, development, review, funding and management of a portfolio of research Programmes and Projects which include discovery and validation of signatures of early cancer, and development of the technologies to enable this. These signatures may detect and also underpin prognosis/stratification/prediction of response to therapy and/or prevention.
Research can involve discovery, pre-clinical and/or clinical/translational science which is mindful of the clinical and population context. The Committee will meet twice per year.
Early Detection Project Awards support and encourage specific research projects that aim to have a significant impact on how and when cancer is detected.
Deadline: 21 June 2018
Early Detection Programme Awards support and encourage established researchers to perform large, integrated and renewable research programmes which have the potential to transform early cancer detection.
Outline Deadline: 25 September 2018
CRUK-OHSU Spark Awards provides seed funding for research in collaboration with Oregon Health and Sciences University scientists to support development of new partnerships and novel lines of enquiry
CRUK-OHSU Project Awards funds new and existing collaborations in early detection between researchers in the UK and at Oregon Health and Sciences University.
Early Detection Innovation Sandpit and Award will catalyse new multidisciplinary collaborations to drive forward earlier detection of cancer, in partnership with EPSRC and STFC.
Deadline 24 May
Biological research underpinning early detection and biomarker discovery and validation, including but not limited to:
- Basic cellular and molecular science around the earliest transformational events pushing a cell from normal to at-risk to dysregulated to cancerous, thereby suggesting potential early detection markers to be explored
- ‘Omics for early detection: high throughput, high dimensional data research in markers for early detection, including proteomics, metabolomics, lipidomics, genomics, epigenomics, transcriptomics
- Basic biology and detection of circulating cellular and nucleic acid markers for early detection of cancer or pre-disease, e.g. ctDNA, CTCs, exosomes, RNAs
- Studies may include the use of model systems, such as model organisms, cell lines, organoids and xenografts, or primary human samples
Human-based EDx discovery research including but not limited to:
• Biomarker discovery and validation in early stage disease (and pre-cancerous state) patients
• Biomarker discovery and validation in healthy volunteers
• Exploitation of existing cohorts and biobanks for discovery research and technology development in an early detection context
Stratification of populations by risk to identify and exploit high-risk groups as populations for early detection research, and as appropriate clinical contexts for development of novel detection technologies
• Use of the tools, methods and insights of population science, epidemiology and risk assessment through collaborative research to inform the above.
Data and computation-driven approaches to early detection, including but not limited to:
- Biomedical and health informatics: computational high dimensional data analytics for interpretation of potential early detection marker profiles; analysis and integration of (multimodal) data arising from e.g. genomics, proteomics, imaging, e-health records, patient/public-derived data (personal activity monitors etc.)
- Computational and systems biology: computational and mathematical modelling of complex networks and systems to understand normal, pre-cancer and early cancer biology. Modelling of the interaction within and between complex biological systems to facilitate early detection and prediction of implications of markers (e.g. distinguishing lethal from dormant disease).
Development and utilisation of preclinical early detection model systems (e.g. cellular, organoid, xenograft, animal model) to recapitulate early cancer and precancerous states, including but not limited to:
- Creation and characterisation of new model systems
- Use of model systems to probe and understand early events leading from normal cellular function through to cancer
- Use of model systems to identify potential early detection markers for future clinical validation
- Use of models systems as platforms for development of early detection technologies
Early detection technology development – exploratory and translational research, including but not limited to:
- Imaging: progressive research into advanced imaging technologies for cancer detection. Novel modalities, novel probes, novel contrast agents etc.
- Circulating marker detection technology: enhancement of sensitivity/specificity of detection technologies for ultra-low concentration circulating markers e.g. cells, DNA, proteins, exosomes
- Advanced detection technologies (nanotech, photonics, synthetic markers etc.): engineering and physical science to enable novel methods of detection of very low-concentration markers
Translational and clinical early detection research: experimental work in patients and healthy volunteers around development and validation of early detection approaches and technologies.
Innovate UK is working to broaden the range of innovation finance support available to businesses, so they can access funding at all stages of innovation.
Innovation loans are for UK small or medium-sized enterprises (SMEs) that want to scale up and grow through innovation, developing new or improved products, processes or services. They can be used for late-stage research and development (R&D) projects, which have not yet reached the point of commercialisation.
The briefing events are designed to provide vital information to enable businesses to decide if an innovation loan is appropriate for them and, if so, to develop a clear and compelling application that shows that they have an innovative project and are suitable for a loan.
The competition launch event, with a live and recorded webinar, will take place in London on Monday 30th April 2018. Further briefing events will be held across the UK:
• Monday, 30th April, London (also available as a webcast)
• Wednesday, 2nd May, Manchester
• Wednesday, 9th May, Birmingham
• Thursday, 10th May, Cardiff
• Wednesday, 23rd May, Edinburgh (Please note this is rearranged from 1st May)
The deadline for registration for the competition is 12:00 on 6 June 2018 and the application deadline is 12:00 on 13 June 2018.
THE UNIVERSITY OF LIVERPOOL
FACULTY OF HEALTH AND LIFE SCIENCES AND FACULTY OF SCIENCE AND ENGINEERING
MEDICAL RESEARCH COUNCIL SKILLS DEVELOPMENT FELLOWSHIPS (3): QUEST (QUantitative Early-career Skills Training) Programme
£33,518 - £38,833 pa
Applications are invited for three Medical Research Council (MRC) Skills Development Fellowships (SDF), to be held at the University of Liverpool, a world-class centre for developing researchers in priority skills areas of importance to modern health and biomedical research. Skills Development Fellowships are 3-year research and training postdoctoral fellowships that will support capacity building in specific MRC priority areas. A SDF is suitable for both very early career researchers (e.g. having just finished their PhD, or about to) or for more established researchers who wish to transform their career through delivering an ambitious research programme alongside targeted training opportunities to gain or enhance quantitative skills applied to biomedicine.
The University of Liverpool seeks to recruit outstanding postdoctoral scientists who are looking to establish their own independent research career. This prestigious award will provide a salary plus running expenses for 3 years, and enable the appointee to establish their own research programme at the University of Liverpool.
Liverpool is seeking candidates with a qualification in one or more of three quantitative disciplines (statistics, applied mathematics, computer science), who may have had little or no exposure to health research. Suitable candidates will need to deliver a research programme of relevance to one or more of our identified scientific themes of stratified medicine, infection, regenerative medicine and/or public health. Fellows will receive relevant training and supervision in at least two of the quantitative skills areas of statistics, computer science and applied mathematics, whilst being part of a team undertaking world-leading research in one of the biomedical areas described. More information on all of these research areas can be found on our Fellowships website: http://liverpoolmrcsdf.uk/
We encourage applications for our Fellowships from across the global community and all appointments are made solely on merit. The University of Liverpool is committed to promoting equality and diversity, including the Athena SWAN charter for promoting women’s careers in STEMM subjects (science, technology, engineering, mathematics and medicine) in higher education. The University has a Silver Award for its commitment to gender equality in the workplace and we welcome applications from a diverse range of backgrounds.
Closing Date: 21st May 2018
Interview Dates: 8th and 12th June 2018
For full details and to apply online, please visit: https://recruit.liverpool.ac.uk
The UK Pharmacogenetics & Stratified Medicine Network 2018 Open Meeting took place at 30 Euston Square in London on March 21st. We would like to thank our sponsors, exhibitors, speakers and delegates for helping to make the event such a success.
We also appreciate the feedback we have been receiving. We compile all such comments and use them to help shape future events.
Delegates described the meeting as "thought provoking", "fascinating and useful", "thoroughly enjoyable and very informative." One of our delegates wrote that this was "probably the most interesting and inspiring meeting I have been to in 12 months (and I go to a lot)". Another said, "the event has been really good over the last few years but I think this is the best so far in terms of content and relevance."
Many delegates chose the patient talks as their highlight of the day, while others enjoyed the disease-specific talks on asthma and primary biliary cholangitis.
We also asked for suggestions on what we might do to improve. Some delegates would like to hear more details on the science behind some of the initiatives that were highlighted; others would like to hear more from pharmaceutical companies on their current and upcoming projects.
The following new funding opportunities are available:
Clinician Scientist Award
Efficacy and Mechanism Evaluation Programme An NIHR and MRC partnership
Health Technology Assessment Programme
Integrated Clinical Academic Programme for non-medical healthcare professionals An NIHR and Health Education England partnership
Public Health Research Programme
18/60 Researcher-led (including complex health and care needs in older people and London Devolution Deal highlight notices)
For more information and a list of all current funding opportunities, please visit the NIHR website.
Cancer is caused by changes to DNA that affect the way cells grow and divide. There are at least 200 forms of cancer, with many subtypes. Identifying the changes in each cancer’s complete set of DNA—its genome—and understanding how these changes interact to drive the disease will lay the foundation for improving cancer prevention, early detection, and tailored treatments.
The Cancer Genome Atlas (TCGA) was launched in 2005 by NIH’s National Human Genome Research Institute (NHGRI) and National Cancer Institute (NCI) to map the key genomic changes in 33 types of cancer. The multi-institution collaboration focused not only on cancer genome sequencing, but also on different types of molecular data collection and analysis, such as investigating gene and protein expression profiles (when they are turned on or off) and associating them with clinical and imaging data. With over $300 million in total funding, the project involved more than 150 researchers at more than two dozen institutions.
The PanCancer Atlas sums up the work accomplished by TCGA in a collection of 27 papers across a suite of Cell journals. Three summary papers published on April 5, 2018, recap the core findings, and companion papers report more in-depth explorations.
The first summary paper describes a technique called molecular clustering that groups cancers based on their molecular characteristics rather than their tissue of origin. The scientists analyzed gene expression, DNA modifications, protein expression, and other data from about 10,000 tissue samples representing 33 different types of cancer. The team identified 28 distinct clusters based on molecular similarities. Although most of these clusters could be linked to tissue of origin, many contained different cancer types. The most diverse group had 25 cancer types. These findings could help guide the treatment of many cancer patients whose tumors are of unknown origin.
The second paper presents findings on oncogenesis, the processes that lead to cancer development and progression. The authors focused on three critical oncogenic processes: the DNA mutations that drive cancers; the influence of DNA alterations on gene and protein expression; and the interplay of tumors with their surroundings, particularly immune cells. The results will help in the development of new treatments for a wide range of cancers.
The final paper details genomic alterations in 10 key signaling pathways that control the stages of the cell’s life cycle, growth, and death. The researchers found that 89% of tumors had at least one significant alteration in these pathways. About 57% of tumors had at least one alteration that could be targeted with currently known drugs and 30% had multiple targetable alterations. These findings will help researchers explore treatments with more tailored approaches, such as using a combination of drugs to target multiple pathways at the same time.
“TCGA was the first project of its scale to characterize—at the molecular level—cancer across a breadth of cancer types,” says Dr. Carolyn Hutter, NHGRI team lead for TCGA. “At the project’s infancy 10 years ago, it wasn’t even possible, much less on such a scale, to do the types of characterization and analysis that were being proposed. It was a hugely ambitious project.”
“The PanCancer Atlas effort complements the over 30 tumor-specific papers that have been published by TCGA in the last decade and expands upon earlier pan-cancer work that was published in 2013,” says Dr. Jean Claude Zenklusen, director of the TCGA Program Office at NCI.
PHG Foundation is proud to announce that as of 1 April 2018, it will be part of the University of Cambridge.
The School of Clinical Medicine will host the PHG Foundation, a unique combination that will continue and strengthen the Foundation’s successful policy development work in the application of science to benefit health and society.
Commenting on the new association, the Vice-Chancellor of the University of Cambridge Professor Stephen Toope said:
This initiative brings together the unique research strengths of both the PHG Foundation, which has led such exemplary thinking around how science can best work for health, and the University’s world-leading School of Clinical Medicine…I am enormously grateful to the Hatton Trust for making this possible, and look forward to the University and the Foundation jointly addressing some of the major health challenges facing society today.
The Foundation looks forward to working with the Clinical School, the PHG Foundation’s Director, Mark Kroese commented:
The Clinical School is a world-leading source of medical excellence, research and leadership, and we are very much looking forward to working more closely with colleagues there as we continue to provide multidisciplinary perspectives on the policy issues around cutting-edge medical interventions and technologies.
The association has been made possible by a philanthropic gift from the Hong Kong based Hatton Trust, which recognises the University’s global eminence in science, medicine and the humanities alongside the pioneering policy development work of the Foundation. The PHG Foundation has received major funding from the Hatton Trust.
The Chair of the Trustees of the Foundation, Dr Ron Zimmern said:
I am delighted to see the work of the PHG Foundation over the last twenty years recognised by the University of Cambridge, and I am sure that the unique combination of a policy think-tank and a Clinical School will be highly successful.
Looking ahead, the PHG Foundation will also build upon existing and new links with other parts of the University, including the Cambridge Institute of Public Health, the Centre of Law, Medicine and Society at the Faculty of Law, the Centre for Research in the Arts, Social Humanities, the Cambridge Institute for Public Policy and Hughes Hall.
Medical Research Council-funded scientists are beginning a five-year study of childhood arthritis and its linked eye inflammation called uveitis, with the aim of better understanding how to treat the complex condition, which affects one in 1,000 under-16 year olds in the UK.
With nearly £5 million in funding (including £0.5m from Arthritis Research UK), the CLUSTER childhood arthritis study will team scientists at the UCL Great Ormond Street Institute of Child Health (ICH) and other UK institutions* to follow the health trajectories of 5,000 children with the condition.
The initiative is one of four ‘stratified medicine’ projects being funded by the MRC, which is investing £15 million in studies that will establish ground-breaking approaches in treating prostate cancer, kidney disease, alcoholic hepatitis and childhood arthritis. Stratified medicine, also referred to as personalised medicine or precision medicine, is an emerging approach for disease diagnosis and treatment that considers patients’ genes, environment and lifestyle to create tailored therapies instead of a one-size-fits-all approach.
Childhood arthritis can cause long-term disability and poor quality of life – sometimes well into adulthood. If it isn’t diagnosed and treated early, patients may require hip and knee replacements, are significantly shorter than their peers, and some end up in wheelchairs. For those patients who also have uveitis, a condition where the inside of the eyes become inflamed, there is also a significant risk of vision loss and blindness.
Currently, young people diagnosed with arthritis in the UK are given a single drug therapy, but it works in only about 50% of cases. The remaining half must try other treatments, one after the other, to find a therapy which works for them. Along the way, they may experience painful side effects, time out of school and even a worsening of their symptoms.
Ultimately, the researchers in the trial hope to identify a simple biomarker test that will:
- Pave the way to new treatment options, identifying potential new therapies and eventually the trialling of new drugs which work better with fewer side effects
- Help doctors define the right medication for the right duration for each individual patient on the first try. Identifying the right treatment ensures symptoms are managed and that the condition doesn’t develop into lifelong disability
- Identify which children are at risk of uveitis, a serious eye-inflammation which affects 15% those with childhood arthritis. Currently, patients visit eye specialists every three to six months to screen for this secondary condition that can lead to blindness
- Project long-term outcomes for these children – scientists will track patient health over decades, so they can better predict what may be ahead for these children
Lead researcher, Professor Lucy Wedderburn at the UCL ICH and Great Ormond Street Hospital, said: “Using a stratified medicine approach could be a gamechanger in childhood arthritis and its associated uveitis. A biomarker test could lead to methods for accurately predicting the right treatment for the right duration, halting the worsening of symptoms and leading to shorter time to remission. Nothing like that has been done before in this area of research.”
Eilean MacDonald, an 18-year-old patient, who was diagnosed with childhood arthritis as an 18-month-old baby, is taking part in the study. It took years of trying various medications until she found the right treatment to alleviate her symptoms. She’s now on crutches and requires an ankle replacement this summer.
MacDonald said: “When you think of arthritis you see a 70-year-old lady with stiff hands, not an 18-month-old baby or a teenager. People don’t believe children can get arthritis but we do. I’ve missed school and had to quit activities I loved because of my condition.
“This research is so important – it could mean the next generation of kids with childhood arthritis won’t have to go through what I did. They could have the right therapy handpicked for them, reducing the impact it has on their lives. They could have even one piece of their life that’s more consistent and predictable while living with this disease.”
Professor Sir John Savill, Chief Executive Officer at the MRC, said: “Stratified medicine is reshaping the medical landscape by taking a patient-first approach that looks at how – and why – different groups of patients respond differently to therapies. Instead of looking for a ‘one-size-fits-all’ solution, stratified medicine is increasing what we know about diseases and how they affect individuals, and applying these findings to current tools in diagnostics and treatment to improve health outcomes. I am particularly pleased to see the potential benefits of this research approach extended to children with a life-changing condition.”
Dr Natalie Carter, head of research liaison and evaluation at Arthritis Research UK, said: “Twelve thousand children in the UK have juvenile idiopathic arthritisopens in new window (JIA), and this can have a significant impact on their physical, emotional and social well-being. In addition to the pain they experience, over 50% of these children may go on to have severe limitations in movement as adults, limiting their ability to carry out every day tasks. By working in partnership, we can all make a bigger difference for these children living with such a debilitating condition. We are excited to see the results of this project in the future.”
The Stratified Medicine Initiative is a major part of the MRC’s research strategy. Whether described as stratified, precision or personalised medicine, the research will provide new insights into disease mechanisms to enable better tailoring of existing treatments, and pave the way for the development of new treatments, diagnostics and care pathways.
*The CLUSTER study includes collaboration with the UCL Institute of Ophthalmology, and scientists from Manchester, Liverpool, Cambridge, Bristol and London. CLUSTER is receiving additional co-funding from GOSH Children’s Charity and Olivia’s Vision, the sole UK charity dedicated to providing information and support to families and patients diagnosed with uveitis.
The other funded projects include ReIMAGINE, which is developing better screening for prostate cancer; NURTuRE, which is building kidney disease-specific cohorts to rethink the way new drugs are developed and trialled; and a study on alcoholic hepatitis, which is aiming to develop biomarker tests to quantify risk and improve management of the disease.
The MRC funds medical research and training from fundamental lab-based science to clinical trials, and in all disease areas. We internationally in partnership with public and charity funders, with industry, regulators, policy makers and the public to deliver its mission. In deciding which research to support, the MRC places priority on discovery science that is likely to make a difference to clinical practice and improve human health.
The Investing for Impact report highlights the benefits derived from MRC-funded research and reflects the focus of the MRC Delivery Plan (PDF, 523KB) and the MRC's strategic objectives as outlined in Research Changes Lives 2014-2019 (PDF, 2.15MB). We have selected case studies of reported research impact realised during 2015/2016 and that highlight MRC-led strategic initiatives. For quantitative analysis, we have analysed the MRC’s investments and reported outputs over the last five years placed in the context of 10 years of MRC funding.
The report focuses on priorities highlighted by the MRC which aim to address major health and societal challenges in the UK and globally. Furthermore, other areas of research, training, and targeted approaches to funding innovative and effective research remain important to the MRC. The MRC funds cutting edge research where it occurs; either regionally-focused or across the entire UK.
The UK Pharmacogenetics & Stratified Medicine Network Open Meeting took place on March 21, 2018 at 30 Euston Square, London.
Upwards of 200 delegates were treated to a fascinating range of talks from leading figures in the field as well as personal accounts from patients.
During the first session, Professor Sir Munir Pirmohamed discussed the success of his Genotype-Guided Warfarin Dosing pilot, as well as the NHS genomic medicine goals for 2020 and 2025.
Sir John Savill outlined the MRC's consortium approach, referring to 95 industry/academia partnerships.
Doctor Karen Spink announced some exciting new initiatives and funding competitions from Innovate UK, including the new Precision Medicine Investor Accelerator, also revealing that every £1 spent by Innovate UK has led to £7.30 in investment.
NIHR CRN Cluster Lead Professor Michael Beresford described how services are being improved to better deliver stratified medicine research.
The second session featured a number of disease-specific talks, outlining how stratified medicine is working in asthma, psoriasis and primary biliary cholangitis.
Janette Rawlinson discussed the stigma attached to lung cancer, something that as a never-smoked lung cancer patient she has experienced firsthand.
During the afternoon, we heard from Professor Magnus Ingelman-Sundberg on implementing WGS analyses into pre-emptive pharmacogenomics advice and Professor Sir Munir Pirmohamed was back to discuss the pharmacogenomics of serious adverse drug reactions.
Stuart Doyle provided an unforgettable account of his personal journey through SJS and TENS; his inspirational and grateful comments addressed to those who spend hours, days and weeks working on spreadsheets of data had a marked effect on the audience.
The final session highlighted some of the exciting progress and bold upcoming projects from the industry sector.
Delegate feedback is currently being gathered, the results of this will be published here shortly. All the talks at the event were recorded and will be available to view in due course.
The 6th Annual Open Meeting will take place on March 20, 2019.