Friday, 12 May 2017 09:28

PIF is delighted to publish a Summary Report of Phase 1 of our Perfect Patient Information Journey project.

A key plank of PIF’s mission is to campaign for high quality healthcare information and support to be an integral part of the patient journey.

PPIJ Summary Report May 2017

In light of the growing move towards supporting people with long-term conditions to self-manage and share in decision-making about their care, PIF has launched a project aimed at creating a model pathway to support the ‘perfect patient information journey’ for people with long-term conditions.

The project aims to:

  • Identify good practice principles to ensure the provision of high quality information for people with long-term conditions.
  • Develop resources aimed at supporting patients, healthcare professionals and commissioners to better access, provide and commission high quality information.
  • Pilot and evaluate these resources in a clinical setting.

The first phase of the project involved conducting research on previous efforts to embed information into patient pathways, as well as talking to patients, healthcare professionals and commissioners, to identify key themes related to the provision of high quality information.

Ten key points were identified:

  1. Information on first diagnosis is essential.
  2. Information on first diagnosis can also be overwhelming.
  3. Information needs change as people move along the pathway.
  4. Every patient pathway is different, but there are certain points along each pathway where information is essential.
  5. It’s obvious, but information must be tailored to the needs of the individual.
  6. Being supported to ask questions is vital.
  7. ‘Dr Google’ can be a problem, but patients generally know how to filter online information.
  8. Local leadership and information champions are needed.
  9. Healthcare professionals want to do more, but time is a barrier.
  10. Commissioners want to do more, but need the evidence

The full summary report from Phase 1 of the project, covering the key findings from our research and recommendations, can be read here.

Launching the report PIF’s Chair, Sue Farrington, said:

“This report brings together the experiences of people with long-term conditions, healthcare professionals and commissioners, to begin to create a map for how we can support health services to embed the provision of good information into their care pathways and improve the patient experience. We are looking forward to testing our findings over the next six months, to evidence the impact of providing better information and develop tools that support health services to deliver this.”

The next steps in the project for PIF are:

  • Develop a Patient Information Commissioning Toolkit to raise awareness of the evidence and policy drivers that support the commissioning of high quality information.
  • Develop a series of resources to support health services measure and improve how they provide information to service users, informed by the principles outlined in this report.
  • Deliver a pilot of the resources, and evaluate the impact to service users, and the service, in improving the provision of health information.

The pilot stage of the project will begin next month and we look forward to sharing the results towards the end of 2017.  Based on the experiences to emerge from the pilot, the findings from good practice research and subsequent recommendations, PIF will aim to campaign at local and national level for a greater policy focus on ensuring effective access to healthcare information.

Monday, 24 April 2017 10:07

The Medical Research Council’s neuroscience and mental health board has launched a completely updated mental health strategy (PDF, 736KB) to drive forward discovery science in the field.

Mental health issues, such as anxiety and depression, are estimated to affect approximately one in six people at any time in the UK and have a significant and long-term impact on the lives of individuals and their families. Mental disorders cost the UK economy an estimated £70-100 billion annually.

The MRC will work with other Research Councils; Departments of Health across the four nations of the UK; charities; industry and people with experience of mental illness.

While continuing to support mental health research through the MRC’s open competitions for research grants and fellowships, the new strategy aims to accelerate understanding of mental illness and the development of new treatments by focusing research in a number of key areas. These will include:

  • A lifelong perspective on mental health and illness with special emphasis on youth and adolescence because of the impact of early life on lifelong mental health. (Work on the MRC-funded Dunedin cohort showed that 50% of mental illness started before the age of 15 and 75% by age 18.)
  • Harnessing data from patients, cohorts and the NHS and employing cutting edge informatics technology and expertise supporting cohort and patient group studies. This will include working with health services and other funders to link research programmes and informatics on a larger scale, allowing better use of information about mental health in existing UK population studies, and new studies with patients, people at risk, and healthy volunteers, powered with new technology. We will provide extra support for researchers to engage with the new Health Data Research UK. This national institute will have a priority topic in lifelong mental health and will be vital in the development of capacity and methods to use new data science.
  • Develop a major new investment in global mental health (up to £20m over five years in the first instance) in order to progress understanding of the interactions between biology, environment, culture, cognition and experiences during childhood and adolescence that contribute to mental health disorders and directly address the growing global burden of mental illness.
  • Accelerate research and development of better pharmaceutical and non-pharmaceutical therapies (including psychological, behavioural, cognitive and digital) and early, preventative interventions for mental illness. One barrier to therapy development is that validated targets are not being developed quickly from discovery science effort. This could be accelerated by the development of validated cellular, animal, cognitive and behavioural models.

Dr Rob Buckle, Chief Science Officer at the MRC, said: “In research terms, five years may not seem a long time, but since the MRC launched its strategy for mental health research in 2012 there have been a number of advances in understanding the biological, environmental and psychological factors that influence the development and impact of mental illness.

“Mental health has been and continues to be a priority for the MRC, from funding our researchers to explore the role our genes play in mental health, through understanding brain function and cognitive processes, to developing new digital technologies to help people to live with conditions as challenging as schizophrenia.

“With a significant financial commitment to ensure the UK is at the forefront of new discovery science in mental health, this rebooted strategy sets out how we will further accelerate our understanding of mental illness with the long-term aim of developing new treatments for the prevention of, and early interventions for, mental disorders."

Read the full story on the MRC website.

Wednesday, 12 April 2017 14:22

On 5 October 2016, the Academy of Medical Sciences and the Pharmacogenetics and Stratified Medicine Network held a FORUM workshop on ‘Health economics for stratified medicine’.

The workshop aimed to explore the ‘value’ of stratified medicines and diagnostics and the evidence base underlying new approaches to economic evaluation.

The discussions at the meeting broadly focused on three main challenges:

(a) consideration of new elements of value;

(b) a new reimbursement model which reflects this value and the needs across different stakeholders; and

(c) different standards of evidence.

Key points of discussion from the workshop included:

 Building a broader definition of value for stratified medicines that incorporates aspects beyond direct health improvements such as reduced switching between treatments, patient ‘trust’ in clinical decisions and ability to work. There should be a drive to better accommodate different stakeholder needs and perceptions of value such as patient preferences.

 Establishing a robust model for separating the value of a diagnostic and treatment.

 Acceptability of alternative forms of evidence and methodologies used to generate such evidence as there are specific challenges in evidence collection for stratified medicines. It was agreed that there is an important role for academia in working with regulators and policy-makers to explore such methodologies. Better alignment is needed on evidence requirements from regulators, health technology assessment bodies, payers and other key stakeholders to drive patient access and provide clear signals for development programmes.

 Limited evidence generation around diagnostics which complicates assessment of these technologies. It was agreed that alternative forms of evidence should be accepted where required and in general, evidence generation on diagnostics must be better encouraged and incentivised to ensure that there is a robust evidence base underlying their use.

 Ensuring patient access through driving uptake and adoption of stratified innovations in the NHS and establishing flexible pricing and reimbursement models. These models must both reflect the value of an intervention, and the The Academy of Medical Sciences 5 potential evolution in value over time, as well as creating a mechanism by which innovations such as companion and complementary diagnostics, and combination products, can be appropriately evaluated.

 The overarching need for a general culture change in the healthcare system, particularly amongst commissioners and clinicians, moving from a short-term focus on cost-savings to a longer-term view of the benefits of moving towards a stratified approach.

 Achieving a balance between value to individuals and populations when assessing medicines, and the benefits of mechanisms such as shared decision-making in supporting choices at a personal level whilst enabling wider evaluation at a population level. It was agreed that to be feasibly incorporated into evaluation, personal utility and patient preferences must be considered at the population level, which will require societal evaluation similar to the quality-adjusted life year (QALY) measure.

Click here to visit our workshops page and read the summary report.

Monday, 10 April 2017 13:14

The Problem Solving in Oncology series is published with the Association of Cancer Physicians, and the latest title is called Problem Solving through Precision Oncology. 

Problem Solving Through Precision Oncology is:

  • Authoritative: the latest book in the series from the Association of Cancer Physicians, written by 76 contributors including the editors Ellen Copson, Peter Hall, Ruth Board, Gordon Cook and Peter Selby
  • Comprehensive: providing a succinct overview of the latest progress in the field with 15 clear teaching chapters to refresh knowledge.
  • Practical: gives a hands-on guide for the cancer physician including 21 ground-breaking real-life case studies showing how to apply precision  in practice.
  • Educational: a valuable learning tool for everyone in the team, including graduate medical trainees and anyone wanting to expand their knowledge.
  • To see the contents and view a sample chapter, click here

While precision oncology has huge potential to improve the well-being and outcomes of treatment for cancer patients, the challenges of application can be daunting. This book is a highly practical resource, helping clinicians and their teams make good decisions and gain a common understanding of this important new treatment area.

Monday, 10 April 2017 13:06

The Pharmacogenomics Research Network has entered into a working relationship with the UK Pharmacogenetics and Stratified Medicine Network to advance basic and clinical research in pharmacogenomics and its clinical translation.  

We will work together to cooperate and collaborate on programs of mutual interest, including joint meetings/workshops in Europe and the US, and foster collaborative research worldwide. 

Click here to learn more about the PGRN.

Friday, 07 April 2017 13:07

Professor Joanne Hackett joins Genomics England on 18 April 2017 as its new Commercial Director and lead member of the company’s new Commercial Business Committee.

As Commercial Director, Joanne will develop the next phase of Genomics England’s industry engagement strategy by developing, managing and accelerating relationships with commercial organisations − creating opportunities for collaboration both nationally and globally.

Joanne brings a formidable track record of clinical, academic and entrepreneurial success. Training initially in regenerative medicine, she has gone on to create and sell two companies to major multinationals; hold a professorship at the University of Cambridge; and has worked for organisations such as UCLPartners and Cambridge University Health Partners to translate academic research into medical and commercial returns.

Professor Joanne Hackett said: “The relentless pursuit of better health for the patient population is at the heart of Genomics England. I look forward to being part of the journey and plan to work closely with our stakeholders to realise the potential of genomic medicine.”

Sir John Chisholm, Executive Chair at Genomics England said: “We are delighted that Joanne Hackett is joining Genomics England as our new Commercial Director. She will play a pivotal role in accelerating industry engagement to further our goal of developing new diagnostics and treatments, applied in an NHS that is well prepared for a future of genomic medicine. Joanne’s expertise, drive and ambition will help Genomics England to deliver better care and improved outcomes for patients – not just in the UK, but across the world.”

Click here to visit the Genomics England website.

Friday, 07 April 2017 10:04

Following our recent Open Meeting, feedback is in from our delegates.

The venue, 30 Euston Square, was described as "perfect, excellent, fantastic, lovely, superb, outstanding”. Delegates loved the location, the lecture theatre, the delicious food and the welcoming venue staff. 

The event was described as  "friendly, informative, visionary, thought-provoking, stimulating, well organised, very impressive.” Delegates felt that the speakers were “top-notch”, “high calibre” and enjoyed the broad scope of diverse topics presented. Many commented on the excellent networking opportunities. Comments included:

“I found it to be very well organised and extremely fruitful: many inspiring presentations and plenty of interesting people to network with. The conference covered some of the hottest topics related to stratified medicine and each talk gave me a take home message.”

“A great event with a broad range of fascinating topics delivered by a great bunch of speakers.”

“Great value for money.” 

Click here to view talks from this and previous Open Meetings.

Of course, there is always room for improvement. Genomic talks were focussed on Mendelian disorders and single variants, but the polygenic underpinnings of common disorders and treatment response will be where the real gains in healthcare come from.  While the evidence for implementation is still weak, it is important to prepare clinicians, scientists and patients for this change in perspective. 

Despite there being female chairs we need more female speakers.

More practical information of how the genome project data is going to be used in practice is needed  and there are many questions to be answered. For example: Are there pilots planned to try use in discrete clinical areas? How will guidelines for practice adapt? How will HTA review adapt? 

The Network holds focused workshops to address the challenges of adoption of stratified medicine into the clinic and will look to incorporate answers to these comments in future workshops.  Click to view the presentations and findings from our workshops.

Monday, 03 April 2017 10:27

Whole Genome Sequencing to diagnose TB

Public Health England has announced that Whole Genome Sequencing (WGS) is now being used to identify different strains of tuberculosis (TB).

This is the first time that WGS has been used as a diagnostic solution for managing a disease on this scale anywhere in the world.  The technique, developed in conjunction with the University of Oxford, allows faster and more accurate diagnoses, meaning patients can be treated with precisely the right medication more quickly. Where previously it could take up to a month to confirm a diagnosis of TB, confirm the treatment choices and to detect spread between cases, this can now be done in just over a week by Public Health England’s Birmingham laboratory. This slows the spread of the disease and boosts the fight against anti-microbial resistance.

This world first service has been developed in partnership with Genomics England, National Institute for Health Research (NIHR) and Wellcome Trust. The implementation of this technology will contribute to achieving the aims of the 100,000 Genomes Project.

Health Secretary, Jeremy Hunt, said:

“The UK has a proud history of leading the world in science and innovation – this is another global first for our country. These pioneering techniques will change patients’ lives in the NHS as well as being used across the globe to slow the spread of a terrible disease and take the fight to drug resistant infection.”

Professor Mark Caulfield, Chief Scientist at Genomics England, said:

“Genomics England are delighted to fulfil the transformative ambition of the 100,000 Genomes Project infectious disease programme for the NHS by finding a faster, better diagnostic approach for a tuberculosis which is a major infectious disease causing many deaths world-wide.”

Professor Derrick Crook, Director of National Infection Service, Public Health England, said:

“The use of whole genome sequencing to diagnose, detect drug resistance and very accurately type TB is a world first for any disease on this scale. By working closely with our partners, we are now able to use cutting edge science to effectively treat these patients with the right medicines quickly. We are immensely proud of the contribution this makes to the prospects of better treatment of TB globally. This approach will also increasingly be used for many other infectious diseases. Our ambition is to achieve this as quickly as possible so many infections can be better diagnosed and treated.”

The work has been supported by the NIHR Oxford Biomedical Research Centre, a partnership between Oxford University Hospitals NHS Foundation Trust and the University of Oxford to enable clinical research for patient benefit and foster innovation to improve healthcare.


Whole genome analyses for cancer returned to the NHS within three weeks

One key aim of the 100,000 Genomes Project is to improve cancer care for NHS patients. Whole genome sequencing in cancer can enable clinicians to choose better treatments and improve outcomes for patients through personalised medicine.

While the Project continues to recruit patients and develop the infrastructure for interpreting genomic data at scale, we are delighted that the first four cancer whole genome analyses from our ‘fast track’ project have been returned to the NHS in 18 working days of patient samples being dispatched to our whole genome sequencing pipeline.

Our ‘fast track’ project aims to provide cancer analyses within a timeframe that will help in clinical decision-making and care. It is a major part of our plans to build a sustainable legacy for cancer whole genome sequencing.

Further work is needed so the pathways for sample processing and data analysis in whole genome sequencing can be fully accredited for diagnostic use. NHS laboratories will now confirm our reported findings with a standard accredited test, before using the information to guide clinical management.

Chief Scientist, Professor Mark Caulfield says:

“During the early stages of our cancer programme, most patients will not see a personal benefit as we develop the tools, processes and systems to analyse genomes at scale. But this first set of fast-track results is very promising and confirms that we can return whole genome analyses in time to provide better outcomes for NHS patients.”

Throughout 2017 and 2018, we will return results for patients in both rare disease and cancer at pace.

Friday, 31 March 2017 13:08

The following new funding opportunities are available:

Efficacy and Mechanism Evaluation Programme
An NIHR and MRC Partnership

17/35 Mechanisms of action of health interventions
17/37 Interventions to slow the progression of chronic kidney disease
17/38 Chronic obstructive pulmonary disease
17/39 Intraoperative imaging for oncological surgery

Health Technology Assessment Programme

17/12 Coenzyme Q10 and chronic heart failure
17/13 Cytoreductive surgery with hyperthermic intraoperative peritoneal chemotherapy
17/14 Zoledronic acid to reduce fractures in patients with alcoholic liver disease
17/15 Thrombolysis in submassive pulmonary embolism
17/16 A national pre-hospital major trauma triage tool/process
17/17 Management strategies for pilonidal disease
17/18 Treatment of children with medial epicondyle fractures
17/19 First trimester detailed ultrasound scan for the earlier detection of fetal anomalies
17/20 Improving continence in children and young people with neurodisability
17/21 Early mobilisation/ rehabilitation in paediatric critical care
17/22 Mode of delivery for preterm infants
17/23 Treatment of torus fractures
17/24 Topiramate for posttraumatic stress disorder
17/25 Cognitive behavioural therapy-based treatment for adults with intellectual disability and harmful sexual behaviours
17/27 Surveillance of arteriovenous fistulae in haemodialysis
17/28 Benzodiazepines for treatment resistant panic disorder
17/29 Effectiveness of group arts therapy for diagnostically heterogeneous patients in mental health services
17/30 Urinary catheter washout
17/31 A refined prognostic tool to better identify individuals at high risk of developing psychosis
17/32 Variceal bleeding in people with small oesophageal varices
17/33 Management of diarrhoea in patients with stable ulcerative colitis
17/34 Opioids for the treatment of breathlessness in palliative care

Research for Patient Benefit Programme
Competition 33

For more information and a list of all current funding opportunities, please visit the NIHR website

Wednesday, 29 March 2017 10:08

The UK is at the forefront internationally in the area of genomics and personalised medicine. This presents a great opportunity for the UK to capitalise on this position and achieve commercial gain through international commercial partnerships, as well  as enjoy the many other benefits  of international collaboration. Healthcare UK is a small team within the UK Government which helps organisations win international commercial contracts.

Clinical Lead for Healthcare, Rory Shaw, as well as his team, are actively looking for commercial opportunities in many countries in particular China, which is currently the most rapidly growing healthcare market. They are taking a very broad definition and looking in all areas including education and training, clinical services, pharmacogenomics, laboratory services, data handling, analytics, data interpretation, big data, research, med tech,  e- and m-health applications and new therapies, as well as looking in areas such as cancer and diseases where the new –omics era has a potential  impact.

Healthcare UK are looking for organisations in both the commercial and public sectors which meet the following criteria - 

A] Working in any aspect of genomics, pharmacogenomics, precision medicine, and other -omics linked clinical areas such as cancer, or inherited disease

B] U.K. Registered company or part of the UK public sector

C] With a clear offer of a product or service

D] A desire and corporate commitment to winning a commercial deal overseas, in particular in China, within a year

E] Being “market ready” with a sufficient understanding of what it would take to work overseas in terms of scale of the market and culture

F] Having the ability to follow up an introduction including visiting the customer in their own country eg China

If your organisation meets these criteria, it would be helpful also to know your view on which countries you are, or are not interested in, and also your idea of the type of customer in the target country likely to be interested in your product or service.


To make contact with Healthcare UK regarding this, organisations would need to prepare one Power Point slide indicating -

1] your product or service, described in about four lines and written in a way  that a lay person in an embassy overseas can understand

2] a couple of lines about your company and the website details

3] any evidence of existing or previous overseas commercial activity (this gives confidence to the customer)

4] the email address of the contact person

This slide should be submitted to This email address is being protected from spambots. You need JavaScript enabled to view it.

Wednesday, 29 March 2017 09:51

Professor Andrew Morris has been appointed Director of the new UK health and biomedical informatics research institute, which is to be named Health Data Research UK (HDR UK). The new institute will, for the first time in the world, incorporate on a national scale the whole breadth of data science research aimed at improving human health.

HDR UK is a joint investment led by the MRC, together with the health research departments of England, Scotland and Wales; the Engineering and Physical Sciences Research Council (EPSRC); the Economic and Social Research Council (ESRC); British Heart Foundation; and Wellcome. Harnessing the power of the NHS and associated health and biomedical data in the UK, HDR UK will develop and apply the cutting edge informatics approaches needed to address the most pressing health research challenges facing patients and the public.

Professor Morris was chosen by expert and lay panels following an open international search led by the MRC. He is a world leader in the field whose research has advanced the use of health informatics in the UK and beyond.

The new director currently works at the University of Edinburgh, directs the Farr Institute’s centre in Scotland and is Chief Scientist at the Scottish Government Health Directorates.

Professor Morris said: “The UK has world renowned data resources and research capabilities. As the volume and complexity of health data increases, there is an extraordinary opportunity to harness advances in mathematics, statistics and computer science to develop the medical science of tomorrow.  HDR UK will enable us to remain at the forefront of this new field of health research by, for the first time anywhere in the world, incorporating the whole breadth of data science research from the laboratory to the clinic to the population, on a national scale.

“The Farr Institute and other informatics programmes have laid superb foundations in this area. The opportunity now is to find innovative ways of linking detailed epidemiological data with biological data at scale. This ‘molecule to man approach’ is imperative if we are to fully realise the UK’s huge potential to solve the health challenges we face, to make new medicines, and to transform lives locally and globally.”

HDR UK will build on the partners’ long term investments in informatics skills, science and infrastructure. Over recent years, these have led to advances in many areas such as stratified and precision medicine, using genomic medicine to improve patient healthcare delivery, and in understanding how the environment affects public health. HDR UK will now bring together, into a single independent organisation harmonised under a single director’s vision, the breadth of interdisciplinary skills, expertise and national and international partnerships needed to accelerate progress, analysing complex and diverse health related data at an unprecedented depth and scale.

HDR UK will also work closely with charities and the public as part of its commitment to public communication and engagement around the use of health related data. Developing NHS and industry partnerships that can work within trusted frameworks will be important in realising the opportunities to transform health and healthcare.

The Chair of HDR UK will be Dr Graham Spittle CBE, Vice-President IBM. Dr Spittle has been Interim Chair for the institute since July 2016.

Dr Spittle said: “I’m delighted that Professor Morris has accepted the position of Director following an open international search for an outstanding and visionary leader. The new institute will bring together leading edge health scientists and advanced analytics to revolutionise health research and delivery.”

The MRC, together with the other partners, has made an initial commitment of £50m over five years. Additional funding is expected to be provided by new partners investing in specific projects. 

Read the full story on the MRC website.

Friday, 17 March 2017 14:59

Innovate UK have started recruitment for a series of roles in Health & Life Sciences.  

Two roles are currently open, Innovation Lead in Precision & Discovery Medicine, and Innovation Lead in Advanced Therapies.

Click here for more information, or read on for a brief description of each role.


Innovate UK: Innovation Lead - Precision and Discovery Medicine

Closing Date 24th March 2017 

Innovate UK is the UK's innovation agency. We work with people, companies and partner organisations to find and drive the science and technology innovations that will grow the UK economy. 

We are recruiting an Innovation Lead Precision and Discovery Medicine to be responsible for developing and implementing the innovation strategy for UK wealth creation in precision medicine and medicines discovery.   We are looking for an individual with strong business and commercial experience and sound up to date knowledge of the sector in the UK and globally. 

For more information click here to view the full job specification.


Innovate UK: Innovation Lead – Advanced Therapies

Closing Date 24th March 2017

Innovate UK is the UK's innovation agency. We work with people, companies and partner organisations to find and drive the science and technology innovations that will grow the UK economy.

We are recruiting an Innovation Lead Advanced Therapies to be responsible for developing and implementing the innovation strategy for UK wealth creation in advanced therapies.   We are looking for an individual with strong business and commercial experience and sound up to date knowledge of the sector in the UK and globally.

For more information click here to view the full job specification.

Friday, 03 February 2017 11:37

A new agreement between the UK and Japan aims to promote international medical research collaboration, by combining world-class scientific expertise to help advance human health.

On 1 February, the MRC and the Japan Agency for Medical Research and Developmentopens in new window (AMED) signed a Memorandum of Cooperation to advance a UK-Japan partnership in medical research and development.

The aim of the partnership is to promote research collaboration in areas of medical science that build on the strengths of both countries. The research fields identified as initial priorities for collaboration include regenerative medicine, dementia, antimicrobial resistance and infectious disease.

The Japan AMED supports integrated medical research and development, from basic research to practical applications, with the aim of achieving the world's highest level of medical care and services, and to form a society in which people live long, healthy lives.

Professor Sir John Savill, Chief Executive of the MRC, and Professor Makoto Suematsu, President of AMED, signed the agreement at the Japanese Embassy in London, as part of an opening ceremony for a new AMED European office, based in London. 

Professor Sir John Savill said: “The opening of a Japan AMED office in London is an exciting development that will open up new opportunities for UK researchers to work with world-class scientists in Japan’s medical research community, with an initial focus on neuroscience, regenerative medicine, antimicrobial resistance and infectious disease. Our agreement with the Japan agency represents our strong commitment to international research collaboration, aiming to speed up the development of new treatments for diseases, leading to better health for all.”

Professor Makoto Suematsu said: "We are delighted to announce the establishment of the AMED London office, which will serve as a European base from which to build new, and further strengthen, links the Japanese medical and healthcare research communities have with partners in the region. Furthermore, it is our sincere hope that our Memorandum of Cooperation with the MRC – a welcome opportunity to work more closely with world-leading research expertise in the UK – will lead to rapid, real-world benefits in terms of new medical treatments, extended healthy lifespans and improved quality of life."

Click here to read the full story on the MRC website.

Friday, 03 February 2017 09:21

Genomics England has selected QIAGEN’s HGMD® Human Gene Mutation Database for the 100,000 Genomes Project. HGMD is the leading content knowledgebase for interpretation of genomic data in hereditary and rare diseases, providing a deep resource of expertly curated data from the world’s scientific and clinical literature.

The 100,000 Genomes Project will use QIAGEN’s HGMD Online Professional solution, which is part of the QIAGEN Clinical Insight (QCI) portfolio of solutions for the interpretation of complex genomic data, to support scientists, clinicians and researchers in 13 NHS Genomic Medicine Centres for clinical reporting and interpretation.

“Rare and hereditary diseases can lock patients, families and healthcare providers in a long, difficult diagnostic odyssey, and 100,000 Genomes is a cutting-edge NHS program to gather and analyze whole genomes from a large cohort of patients in search of causes and future treatments,” said Dr. Laura Furmanski, Senior Vice President and Head of QIAGEN’s Bioinformatics Business Area. “We are honored to deepen our collaboration with Genomics England. QIAGEN’s industry-leading bioinformatics solutions, including cloud-based HGMD content, will help 100,000 Genomes derive actionable insights from a massive pool of next-generation sequencing data. We are pleased to be selected.”

“We are delighted to work with QIAGEN’s bioinformatics solutions as a comprehensive resource for manually-curated analysis and interpretation content. High-quality interpretation of genomic data in the 100,000 Genomes Project will provide deeper insights into rare inherited diseases, and ultimately lead to more diagnoses and tailored treatments for patients”, said Dr. Augusto Rendon, Director of Bioinformatics for Genomics England.

QIAGEN Bioinformatics offers a portfolio of industry-leading solutions for the analysis, interpretation and reporting of biological data. Products include Ingenuity, CLC bio and OmicSoft software and databases. As part of the QIAGEN Knowledge Base, HGMD is the gold standard for expertly curated content from peer-reviewed publications on human inherited disease mutations. HGMD has been cited in more than 5,000 scientific publications.

Click here to read the full story on the Genomics England website.

Click here to visit the QIAGEN website.

Friday, 27 January 2017 15:30

The NIHR Clinical Research Network (CRN) has introduced the CRN Study Support Service to give greater consistency in the guidance and procedures the CRN provides to support both commercial and non-commercial research delivery in the NHS. As long as a clinical study is eligible for CRN support, the national Study Support Service will provide uniform help for clinical investigators across England regardless of whom the investigators are, or where they are based.
The introduction of the Study Support Service complements the implementation of the Health Research Authority in relation to research governance. The Early Contact and Engagement element of the Study Support Service is the first step in the process and includes advice on how the grant application is optimised for successful delivery in the NHS, as well as providing advice for Chief Investigators and study Sponsors on how the CRN can support delivery of their study on time and to the recruitment target.

Click here to read the NIHR CRN Early Contact and Engagement with Researchers document.

Click here to visit the NIHR early contact and engagement webpage. 

Monday, 23 January 2017 13:38

The UK Pharmacogenetics & Stratified Medicine Network Open Meeting attracts delegates from a range of sectors: academics, clinicians, industry partners, regulators, charities, patient groups and others. 

Feedback from our 2016 Open Meeting told us that our delegates enjoyed the opportunities to meet and build relationships with colleagues from these various sectors; some delegates asked if we could provide even more networking opportunities in the future.

As a result of this feedback we have extended the lunch period at this year's Open Meeting and also included a drinks reception at the end of the day.

Click here to download the full programme for #UKPGx2017.

Click here to register for #UKPGx2017.


Videos of talks from our 2016 Open Meeting and presentation slides from our 2015 Open Meeting are available here.





Monday, 23 January 2017 11:26

At NICE’s January Board meeting, the Board agreed a position statement setting out in detail the important relationship NICE has with the life sciences industry.

Sir Andrew Dillon, chief executive of NICE, said: “As the independent body issuing guidance to the NHS, NICE has a complex relationship with the life sciences industry.

“This is a good moment for us to reflect on our relationship with the industry and to set out what we can do contribute to its long term prospects, whilst maintaining our focus on primary role in helping patients and the NHS get the best outcomes from the resources available. This position paper sets out how we can do that.”

“We want it to provide the basis for our engagement with the Government’s emerging life sciences strategy, as an agenda for our work with the industry, and as a public statement of our role and our commitment to supporting the growth of a thriving life sciences sector.”

NICE continues to work with the industry and Government to develop innovative approaches to evaluate new technologies such as the Early Access to Medicines Scheme and the reformed Cancer Drugs Fund. And NICE’s dedicated Scientific Advice programme and Office of Market Access have also created new opportunities to engage with the industry.

Read the full story on the NICE website.

Monday, 23 January 2017 11:13

Estonia and Finland once again show what good cooperation between neighboring countries can lead to, as both countries prepare to share patient data with one another.

On 10 May 2016, Estonian and Finnish Prime Ministers digitally signed a joint declaration on an initial roadmap for launching data exchange and e-services between Estonia and Finland. It was also agreed that, by the end of 2016, specific action plans would be completed for launching automatic data exchange in the field of commercial registers, population registers, social benefit data, e-prescriptions and maritime affairs.

According to the plan, both countries will make their databases mutually available, which will allow for cross-border access to digital prescriptions by 2017-2018 and full patient medical history by 2018-2019. This step should increase the quality of healthcare in both countries, as doctors and patients will have access to all the data needed, on the spot.

This all ties in with the bigger picture: connected health systems are becoming increasingly popular every day; as such, people should always have access to their data. “People move around more and more therefore data about their health should always be with them. This way they’re able to use the best services from different countries, or live where they desire, without the loss of important healthcare services,” said the Deputy Secretary General on E-services Development and Innovation Ain Aaviksoo.

Aaviksoo went on to explain that doctors could use e-health solutions to offer their services to patients from all over the world. He added that co-operation needs to expand but that it also needs to happen step-by-step. “The United States and several Asian countries are also interested in the e-health system and its support services developed in Estonia. At the same time, our ICT-infrastructure and our citizens’ mentality towards an information society, including the healthcare sector, is most similar to the Nordic countries,” he explained.

When it comes to sharing data, the first question in everyone’s mind is privacy. Aaviksoo explains: “Ensuring privacy and security starts with giving people real control over their healthcare data. Actually, this could be made to suit any country’s combination of law, information technology, and information management applications. The only real technological challenge is the lack of standards to connect all of the necessary data in a suiting way, but in my opinion, this is a question of political will.”

A recent RAND study found that people are becoming more and more open to connected health solutions. It also discovered that most respondents are in favour of health devices and systems that store identification data along with information on lifelong health conditions as well as basic health data. The study also found that most respondents prefer that data can be accessed not just in their home country but across the EU; however, most respondents are averse to worldwide access compared to home country access only.

So, to say that the world around us is becoming more interconnected each day is an understatement. Estonia has always been at the forefront of digital innovation and now it’s time for the healthcare sector to get its part of the innovation as well.

Not only does sharing data make the lives of doctors and patients easier, it also makes them healthier. No more guessing which doctor you visited when you were 12; no more trying to figure out which doctor wrote which prescription. It’s all there, even when you are hundreds of miles away from your home.

Read the full story at the e-estonia website.

Monday, 16 January 2017 12:51

Intellia Therapeutics has joined the Genomics England Genomics Expert Network for Enterprises (GENE) Consortium, as the first dedicated genome editing company to participate in the 100,000 Genomes Project.

The GENE Consortium, established in March 2015, is the 100,000 Genomes Project’s industry partnership.  Intellia will join 12 other companies who are working together in a pre-competitive trial. The collaboration aims to identify the most effective and secure way of bringing industry expertise into the 100,000 Genomes Project to realise future potential benefits for patients affected by rare diseases or cancers.  Members of the consortium are granted controlled access to aggregated, de-identified genome and health data of participants.  They work alongside experts that specialise in data analysis, so that the project can benefit from cutting edge advances in handling Big Data.

Genomics can greatly improve our understanding of health and disease, unlocking new treatments or repurposing existing treatments based an individual’s genomic makeup; so-called personlised medicine.

Sir John Chisholm, Executive Chairman, Genomics England, said: “The potential for genomics to transform healthcare, from better diagnoses to new drugs and treatments, is extraordinary.  We are delighted to welcome Intellia Therapeutics to our GENE Consortium.  The UK is a global leader in population sequencing and it’s important for the future of medicine that we continue to attract and collaborate with the most innovative emerging technologies in this space.”

“Access to genomics information is critical as Intellia looks to better understand the basis of disease and to develop potential genome-editing treatments,” said Intellia’s Chief Executive Officer and Founder, Nessan Bermingham, Ph.D., “We look forward to actively participating in the GENE Consortium, as Genomics England is enabling scientific exploration and key medical insights that ultimately will benefit patients.”

Read more at the Genomics England website.

Monday, 16 January 2017 12:47

A new document has been produced, which sets out principles and obligations of all UK institutions and clinical trainees in receipt of nationally competitive funding for clinical academic research training.

Research-active clinicians have an overwhelmingly positive impact on patient care. But there are still many challenges facing clinicians who juggle clinical work and research.

Academic training must be acknowledged, recognised and integrated with clinical training and work, and clinical academics should feel valued for their important contribution.

The funding community has worked together to develop principles and obligations (PDF, 475KB) which set out what is expected from those responsible for clinical training, trainees and funders across the UK.  This is the first time that all the key players in this community have come together to outline best practice.

A key issue the principles address is employment rights. The principles state that the rights of clinical academics with continuous employment must be protected, even when they change their employer from a NHS trust or board to an academic institution, and vice versa. These rights include all family and care-related leave and pay, as well as sick leave and pay. 

The principles and obligations have been developed in partnership with the following organisations:

  • Academy of Medical Sciences
  • British Heart Foundation
  • Cancer Research UK
  • Conference of Postgraduate Medical Deans of the United Kingdom (COPMeD)
  • Health Education England
  • Integrated Academic Training Advisory Committee (InterACt)
  • Medical Research Council
  • Medical Schools Council
  • National Institute of Health Research
  • Wellcome

The British Medical Association and the British Dental Association were also consulted on, and support, the principles.

Read the full story at the MRC website.

Wednesday, 11 January 2017 14:34

Job Title: Scientific Director of the Leicester Precision Medicine Institute (LPMI)
Salary Grade: 10 - Competitive
Job reference: MBP01756
Post Responsible To: Director of the LPMI, Professor Martin Tobin
Job Purpose:
The Scientific Director of the Leicester Precision Medicine Institute will work closely with the Director and Commercial Director, supported by the Operations Manager, to implement the strategy for the Institute and to strategically develop specific areas and projects of the institute together with our partners. Together the Director, Scientific Director, Commercial Director and Operations Manager will form an Executive Team that will provide smooth and effective running of the Institute and deliver ambitious growth in the discovery, evaluation and implementation of precision medicine in Leicester.
The Scientific Director will attend Executive Team and Scientific Board meetings that will oversee the implementation of the strategy across the core strands of Discovery, Evaluation and Implementation and will deputise for the Director when required. The Scientific Director will play a key strategic role on the Governance Board alongside senior representation from the University, UHL and representatives of patients and the public.
The Scientific Director will show leadership in ensuring the effective operation and development of the Institute. This role will deliver a consistently high level of quality in excellent research and knowledge output, successful generation of income to support research and knowledge activity, together with facilitating activities across the core strands. The Scientific Director will work with affiliated members of the Institute, staff of the Research and Enterprise Division, and with external stakeholders and funders to ensure a collaborative and effective approach to deliver the strategic vision.

Click here for more information.

Monday, 09 January 2017 12:42

NICE is taking part in a European project to speed up the development of new drugs to treat Alzheimer’s disease.

The ROADMAP initiative aims to establish a sustainable platform for real world evidence generation on Alzheimer’s disease.

The new project provides a unique and game-changing opportunity to gather evidence from other sources, such as electronic health records, and discover what outcomes are important to patients and carers.

Alzheimer’s disease, and the different ways it presents and progresses in different people, poses a difficulty for traditional clinical trials which do not always provide answers decision makers such as NICE would be looking for when assessing new drugs to treat the disease.

Professor Carole Longson, Director of the Centre for Health Technology Evaluation at NICE, said: “The ROADMAP initiative is an exciting new project that we are delighted to contribute to. Alzheimer’s disease represents a real challenge for both drug companies and organisations such as NICE.”

NICE’s Science, Policy & Research Programme will be involved in identifying the regulatory, health technology assessment (HTA) and payer challenges and opportunities in making better use of big data sources such as electronic health records.

NICE will also coordinate the input of policy partners across the EU to ensure their requirements are taken into account.

Professor John Gallacher, University of Oxford and one of the projects leaders, said: “Roadmap creates a pan-European collaboration of unprecedented depth and breadth.  This is an unusually exciting opportunity to identify cost-effective treatments for Alzheimer’s disease.”

Dr Matthew Norton, Director of Policy and Strategy at Alzheimer’s Research UK, said: “There is still hope for a number of treatments for Alzheimer’s disease that are making their way through clinical trials, and it will be essential to have the best information available to help assess the impact of any treatments that may prove effective.

“We hope this important project will lead to a better understanding of the outcomes that matter most to people with Alzheimer’s, and help guide health authorities and industry in their efforts to assess the potential long-term effects of new treatments. This is a welcome collaboration, and it’s encouraging to see UK partners, including NICE, taking a lead in this partnership.” 

The IMI (Innovative Medicines Initiative) is Europe’s largest public-private partnership, aiming to speed up the development of better and safer medicines for patients. ROADMAP is the first in a suite of projects that are part of the IMI’s Big Data for Better Outcomes Programme. ROADMAP has a budget of €7.7 million, distributed among 22 partners from the private, academic, and public sectors.

Read the full story on the NICE website.

Wednesday, 04 January 2017 12:26

Professor David Lomas has been appointed as the MRC’s new Deputy Chief Executive.  He takes up a fixed term position which began on 1 January 2017 and will run to 31 March 2018. 

Professor Lomas will sit on the MRC’s management board and his role will focus primarily on supporting John Savill, CEO of the Medical Research Council, in driving forward the MRC Delivery Plan and ensuring that the organisation remains a world leader in medical science in preparation for the creation of UK Research and Innovation (UKRI).

Professor Lomas joins us from University College London where he is the Vice-Provost Health, responsible for overseeing the largest group of medical researchers in the UK.

Sir John Savill, Chief Executive of the MRC, said: “I am delighted that David Lomas is returning to MRC as Deputy CEO.  He is an exceptional clinician scientist and leader, currently overseeing the largest concentration of biomedical scientists in the UK in his role at UCL, which will continue.  He will make an important contribution towards guiding MRC into the successful partnership we anticipate within UKRI”.

Commenting on his new appointment, Professor Lomas said: “I am delighted to be appointed to this role at the MRC. This is an exciting time for the organisation as we work towards creating UKRI and deal with the challenges raised by Brexit.”

Professor Lomas, as the Vice-Provost Health at UCL, serves as Academic Director for UCL Partners Academic Health Science Centre, facilitating and guiding the development of its six academic medical centres. In this role, he promotes close partnership working across UCL Partners to ensure that research expertise and outputs are combined across the whole translational pathway for the overall benefits of patients and the population. Professor Lomas is also responsible for facilitating health initiatives across UCL and building on key relationships with NHS partners, local universities and NHS England. He helped shape UCL’s participation in the establishment of the Francis Crick Institute and serves on the Board of Directors.

Wednesday, 04 January 2017 12:12

NICE and the United States’ Food and Drug Administration (FDA) are working closely to help developers of medical devices, diagnostics, and similar technologies gather the best evidence to demonstrate clinical effectiveness of their products.  The aim is to speed up patients’ access to the best new technologies.

Once they get approval from safety regulators, medical technology companies need to demonstrate the value of their product to the organisations who pay for healthcare – in the UK that is usually the NHS, whereas insurers mostly pay for technologies in the United States. 

The products could be diagnostic tests or medical devices. 

“In their efforts to get a product to market, companies can get caught out,” explains Leeza Osipenko, who leads the NICE Scientific Advice programme. “To win regulatory approval in the US, companies give the FDA data on the safety and efficacy of their devices. But although they often do enough to win FDA approval, they need additional evidence to prove to the organisations who would actually pay for those devices that they are cost-effective and clinically-effective. 

“To help companies overcome this hurdle, NICE’s Scientific Advice programme has joined forces with the FDA in the Payer Communication Taskforce. Early engagement should help medical technology makers to design their development programmes better to produce the data needed both to obtain regulatory approval and to persuade the payers of the value of their product.”

NICE Scientific Advice is a fee-for-service programme aimed at supporting the life sciences industry. It provides advice on the company’s proposals for evidence generation on economic and clinical effectiveness.  NICE’s involvement in this joint initiative may consist of reviewing the evidence a company is gathering; providing advice in a pre-submission meeting with the other advisory bodies and commenting on the resulting company’s minutes; or producing formal written advice as a follow-up to the pre-submission meeting.

Companies interested in asking NICE for advice should notify both the FDA and NICE. More information on the PCTF can be found here.  For details about how NICE can help, please contact the NICE Scientific Advice programme at This email address is being protected from spambots. You need JavaScript enabled to view it..

Wednesday, 04 January 2017 11:19

The funding will be given to 23 NHS organisations and will pay for specialist research nurses and technical staff, as well as providing cutting-edge facilities to support clinical research and trials.

The money, awarded by the National Institute for Health Research (NIHR) following a competitive application and assessment process, will be provided over the next 5 years.

Minister for Public Health and Innovation, Nicola Blackwood, said:

UK researchers lead the world and our investment in this area so far has led to a variety of breakthroughs, including the first new asthma treatment in a decade, and a promising treatment for peanut allergies in children, to name just two.We know that such ground breaking research simply would not happen without the support of these clinical research facilities.I’m delighted to announce this £112 million of extra funding to support the skilled personnel and cutting-edge facilities we need to keep the UK at the forefront of clinical research.

Previous funding for clinical research facilities has led to medical breakthroughs, including:

  • identifying an effective treatment for peanut allergies in children
  • trialling of the ‘bionic eye’ in retinitis pigmentosa (RP) – the first ever study to combine artificial and natural vision in humans
  • establishing an innovative and standardised approach to test treatment for cystic fibrosis
  • developing the first new therapeutic asthma treatment for a decade, reducing the severity and duration of life-threatening asthma attacks


Clinical research facilities and funding

NHS organisationFunding for 5 years from 1 April 2017
Alder Hey Children’s NHS Foundation Trust £2,000,000
Cambridge University Hospitals NHS Foundation Trust £11,485,445
Central Manchester University Hospitals NHS Foundation Trust £12,500,000
Great Ormond Street Hospital for Children NHS Foundation Trust £3,038,927
Guy’s and St Thomas’ NHS Foundation Trust £7,256,216
Imperial College Healthcare NHS Trust £10,885,958
Lancashire Teaching Hospitals NHS Foundation Trust £750,000
Leeds Teaching Hospitals Trust £750,000
Moorfields Eye Hospital NHS Foundation Trust £5,315,730
Newcastle upon Tyne NHS Foundation Trust £4,000,000
Nottingham University Hospitals NHS Trust £2,407,641
Oxford University Hospitals NHS Foundation Trust £3,738,298
Royal Brompton and Harefield NHS Foundation Trust £750,000
Royal Devon and Exeter NHS Foundation Trust £5,738,298
Royal Liverpool and Broadgreen University Hospitals NHS Trust £1,392,550
Sheffield Teaching Hospitals NHS Foundation Trust £3,111,845
South London and Maudsley NHS Foundation Trust £3,964,705
The Royal Marsden NHS Foundation Trust £2,483,179
University College London Hospitals NHS Foundation Trust £6,500,000
University Hospitals Birmingham NHS Foundation Trust £12,812,957
University Hospitals Coventry and Warwickshire NHS Trust £750,000
University Hospitals of Leicester NHS Trust £1,430,641
University Hospital Southampton NHS Foundation Trust £9,244,166

NIHR is funded through the Department of Health and works to improve the health and wealth of the nation through research.

Wednesday, 04 January 2017 11:18

To help improve the quality of the consent process and materials in the 100,000 Genomes Project, we  commissioned a national service evaluation in early 2016. This commitment is outlined in the 100,000 Genomes Project protocol.

The evaluation was led by colleagues from the North West Coast NHS GMC, West London NHS GMC, and West Midlands NHS GMC, with support from Genomics England and NHS England.

Together with findings from other similar and local GMC surveys, results from this evaluation will help to improve the current participant materials. The surveys are now closed.

Visit the Genomics England website to download the Project Report and a summary and infographic of the findings.

Wednesday, 04 January 2017 11:15

The MRC has awarded £3 million to King’s College London for a world-class centre that will aim to transform our understanding of disease mechanisms underlying brain disorders, and translate this knowledge into clinical advances that change people’s lives.

The MRC Centre for Neurodevelopmental Disorders opens in new windowwill benefit from the unique convergence of renowned leaders from multiple disciplines, including neonatology, neurology, psychiatry, neuroscience, genetics, stem cells and imaging technology.

Brain disorders account for one of the greatest burdens of disease in the developed world but the currently available therapies do not work effectively for many patients, and there is a lack of treatments for many conditions. In addition, current treatments are based on symptoms and are not disease modifying, and only around 50 per cent of people respond to them. 

Drawing on expertise from eight different departments at King’s, the Centre will focus on three large groups of disorders that are thought to be caused by abnormal brain development - epilepsy, autism spectrum disorder (ASD) and schizophrenia.

For the first time in decades, technological advances in genomics are beginning to shed light on the genetic and molecular bases of the most common and severe neurodevelopmental disorders. It is also increasingly clear that environmental factors are critical in the formation of brain circuits and, as such, contribute to the emergence of these disorders.  

The identification of genes that make people more susceptible to autism and schizophrenia, along with the environmental factors that modify their impact on brain development, now offer the opportunity to elucidate the shared and distinct biological underpinnings of these disorders - and to translate these advances into rational therapies and individualised medicine.

Professor Oscar Marín, Director of the Department of Developmental Neurobiology at the Institute of Psychiatry, Psychology & Neuroscience (IoPPN), will lead the new Centre. He said: “We are delighted that the MRC has made a priority of research on developmental brain disorders, and that this Centre will be at King’s. This is a vote of confidence in our research and our ability to bring together excellent clinical and basic scientists in a collective endeavour.

“Genetic advances in this field are starting to give us a reasonable idea about what puts people at risk of developing brain disorders such as epilepsy, autism or schizophrenia. We ignore, however, how these genetic changes modify the developing brain to cause disease. In the new MRC Centre we will work collectively to solve this problem. A better understanding of brain development in autism, for example, will help in developing new therapies for its treatment.

”Many brain disorders that appear early in life are highly related. For example, a significant number of patients with autism suffer from epilepsy, which severely diminishes their quality of life. We will work at the interphase between different conditions to understand what they have in common and what make them different. This is perhaps only possible at King’s, where we have fostered a culture of collaboration among neuroscientists, neurologists, neonatologists and psychiatrists that is rather unique in the world.

“The new Centre will nurture the next generation of world-leading scientists, able to work at the interface between fundamental science and clinical research. Together, we will create new opportunities for research in areas that are relatively underdeveloped, and coordinate our efforts with other leading centres across the nation to seek novel solutions for our patients.”

Dr Kathryn Adcock, head of neurosciences and mental health at the MRC, said: “The new Centre will represent a unique opportunity for the UK and will help to bring about better understanding of the impacts of genetic and environmental factors on the developing brain to dramatically increase our knowledge of the disorders epilepsy, autism spectrum disorder (ASD) and schizophrenia.

“The breadth of the science at the Centre will provide training opportunities for the next generation of researchers, some of whom could become leaders, and will also facilitate potential links to industry.  At the same time, the integration of basic and clinical work will present the opportunity to speed up the translation of discovery science into treatment for patients.”

The funding will be used for a new PhD programme in neurodevelopmental disorders and six month placements for clinical specialist trainees where they gain research experience in a Centre laboratory, and attend special lectures and career workshops. 

Read more at the MRC website.

Wednesday, 04 January 2017 11:02

Changes to MRC Senior Non-Clinical Fellowship awards

MRC Senior Non-Clinical Fellowships (SNCFs) are prestigious awards which help independent early-career researchers to develop their long-term research vision and enable their transition to become internationally recognised leaders in their fields. The MRC is committed to supporting this important career stage, recognising that a Senior Fellowship has been a significant stepping stone in the development of many international leaders.

The MRC’s Training and Careers Group recently reviewed our support mechanisms for transitions to leadership. The Group concluded that reverting the tenure of future SNCF awards from 7 to 5 years offers greater flexibility to fund a wider range of researchers, while still offering a generous package to support an ambitious, career-changing programme.

As part of the MRC’s fellowships for critical career stages, we have developed a range of tools and guidance for applicants and clarified:

  • the type of skills and experience applicants should be able to demonstrate in order to be competitive when applying for an MRC Senior Fellowship
  • when a fellowship will provide appropriate support for an individual’s long term career goals and chosen career route.

The tools and guidance are now available on our webpage. The 5-year tenure will apply from the next deadline for SNCF applications, which is on 25 April 2017. 

Wednesday, 04 January 2017 10:47

A study published today in the journal PLOS Medicine has identified the five genetic variants associated with higher levels of the branched-chain amino acids isoleucine, leucine and valine. The researchers also found that these genetic variants were associated with an increased risk of type 2 diabetes.

The researchers, led by the MRC Epidemiology Unit at the University of Cambridge, used large-scale genetic data together with detailed measurements of the branched-chain amino acids and their metabolites in the blood of more than 16,000 volunteers*.

Branched-chain amino acids have fundamental roles in human metabolism and are building blocks of proteins. Unlike some of the other 20 amino acids, they cannot be made by the human body. This means that their levels depend entirely on external sources, from food sources or dietary supplements, and the ability of our body to metabolise them.

To date, while higher circulating levels of branched-chain amino acids have been found to be associated with type 2 diabetes, no study has been able to establish whether this link is causal. This is important, because if the relationship is found to be causal, reducing dietary intake or altering the metabolism of these amino acids could help to prevent diabetes, an increasingly common and serious disease.

The researchers studied over 10 million genetic variants in more than 16,000 men and women and discovered five regions of the human genome with genetic differences that are associated with higher levels of circulating branched-chain amino acids.

They then found that in 300,000 individuals**, including 40,000 diabetes patients, those carrying the genetic differences associated with higher levels of branched-chain amino acids were also found to be at increased risk of type 2 diabetes, providing strong evidence of a causal link.

PPM1K, the gene found to be most strongly associated with levels of all three amino acids and also with a higher risk of diabetes, encodes a known regulator of the key step in the breakdown of branched-chain amino acids. This suggests that an impaired breakdown of these amino acids may put individuals at higher risk of type 2 diabetes. Intervening on this pathway may reduce diabetes risk.

“Our results suggest that treatment strategies which target metabolism of branched-chain amino acids could help to reduce the risk of diabetes, and we already know which molecules target this metabolic pathway”, says Dr Claudia Langenberg from the MRC Epidemiology Unit at the University of Cambridge.           

Clinical trials will now need to be carried out to establish if drugs that target the breakdown of branched-chain amino acids can reduce the risks of type 2 diabetes.

*16,000 volunteers were from the Fenland Study & meta-analysis of KORA and TwinsUK studies.

** 300,000 individuals were from the Diabetes Genetics Replication and Meta-analysis, EPIC_InterAct, GoDART and UK Biobank

Read more on the MRC website.

Wednesday, 04 January 2017 10:40

A report by Digital Science has been published, raising questions important to the production of better indicators of research activity.

The study, sponsored by the Research Councils, and funded by the MRC, set out to compare the consistency of indicators often assumed to explain ‘interdisciplinarity’.  One aim was to recommend a methodology to measure research interdisciplinarity which could be used to track this characteristic over time.

Digital Science, in collaboration with Science-Metrix, tested a batch of potential indicators with data from a common set of disciplines and countries.  The results reveal that choice of data, methodology and indicators can produce inconsistent results.

Indicators used in the study, which was steered by an advisory group of evaluation experts, included: measures derived from analysis of the text of grant applications; the text of research papers; publications cited in these papers; and the departmental affiliations of the authors of these papers. 

Previous analyses have used these criteria as indicators of the extent to which research includes ideas or expertise from different disciplines, but such analyses have tended to focus on a single type of research data or indicator in isolation. 

Dr Ian Viney, MRC’s Director of Evaluation commented: “We expected that some indicators might prove better for suggesting whether work was more or less interdisciplinary, but it was a surprise that some of the indicators gave such conflicting results.”

The report concludes that common assumptions made about the connection between research metadata and research activity may sometimes be flawed. 

Dr Viney added “There is interest in finding better quantitative indicators to support research assessment.  However, we want to use metrics responsibly, which means carefully testing assumptions about what it is you are measuring.”

This study highlights to users of research metrics the importance of clarifying the link between any proxy indicator and the assumed policy target, even if more research is required to explore this link.  It is suggested that to develop indexes for complex research qualities, such as interdisciplinarity, a set of indicators used in combination may be required, but that currently there is no single satisfactory indicator.

The contribution of this study to our understanding of interdisciplinarity will be raised in a joint RCUK/HEFCE/British Academy conference on “Interdisciplinary research: policy and practice” to be held on the 8th of December.

Download a commentary on the report

Download the full analysis

Wednesday, 04 January 2017 10:31

Director announced to lead UK Dementia Research Institute in London

The Director of the UK Dementia Research Institute (UK DRI) has been named as Professor Bart De Strooper, current leader of the Laboratory for the Research of Neurodegenerative Diseases at the University of Leuven and scientific director at VIB, Belgium. Professor De Strooper will lead the national institute from UCL.

The UK DRI is a joint £250m investment into dementia research led by the MRC alongside founding charity partners Alzheimer’s Society and Alzheimer’s Research UK. The Institute will be catalytic in the UK’s research efforts to diagnose, treat, care for and prevent dementias.

Professor De Strooper was selected after a competitive international search led by the MRC. People living with dementia and carers from the founding charity networks met the final candidates to contribute their views to the decision making process.

The Institute’s ‘Hub’ will be based at UCL, which was chosen through a competitive peer-review process. UCL was recognised for its world-class dementias research and state-of-the-art facilities, which will be enhanced through close linkage to a number of regional DRI centres, to be announced in the spring.

Professor De Strooper said: “I am delighted to be directing a world-leading initiative with as much potential as the UK DRI. The UK research landscape is brimming with talent and opportunity. My vision is to establish a unique environment with a diverse and interdisciplinary team ready to undertake creative and innovative research.”

Recent advances in genetics, diagnostics and imaging have advanced our understanding of what causes dementia. However, with significant knowledge gaps still in place, there are currently no treatments available that can stop or slow down the progressive condition.

Professor De Strooper continued, “Right now, our understanding of these diseases is not dissimilar to what we knew, or thought we knew, about cancer several decades ago. What we need is a paradigm shift in the way we think about dementias. Just as we realised that a whole range of factors is responsible for how cancers occur and progress in an individual, we now need to take a more holistic view of dementia and accept that a wide range of approaches may be needed in order to be successful.  We have a huge amount of discovery science to do – and I want to see real surprises.”

With dementia recently recognised as the leading cause of death in England and Wales, and with a globally ageing population, it is more urgent than ever to accelerate efforts.  The DRI will be on the frontline of modern neuroscience to identify new targets for drug development.

UCL President and Provost Professor Michael Arthur, said:  “UCL can lay claim to world-leading expertise across the spectrum of dementia research, from genetics to evidence based treatments and support for patients and carers. We have both the ambition and ability to make a difference and meet the challenge of this most pressing of global public health problems.

“Our vision for a DRI is a truly national asset that facilitates exchanges of ideas, people and resources between groups, disciplines and centres. A UCL DRI Hub will enable and support all DRI centres to deliver on the Prime Minister’s dementia challenge 2020 and internationally on the G8 Dementia Summit Declaration.”

Professor Sir John Savill, Chief Executive at the MRC, added: “Dementias research is a very high priority at the MRC and the new Institute will place the UK at the centre of a global ambition to overcome these diseases. We are thrilled to have attracted such an outstanding scientist as Professor De Strooper and look forward to seeing his ambitious vision bringing together the best science across the UK and internationally to move the frontier of knowledge in dementias research.”

Jo Johnson, Universities and Science Minister, said: “Based in the heart of London’s knowledge quarter, this new dementia research institute at UCL will be the centre of a UK-wide effort to develop new treatments that will improve the lives of millions both here in the UK and around the globe. This is another example of the UK’s world-class leadership in global science and research, and the core strengths we will build on through our upcoming Industrial Strategy.”

Recruitment will take place throughout 2017 from around the world to populate the DRI scientific programmes at the DRI Hub and Centres, including plans for twenty new independent group leader positions for young ambitious scientists.  A further phase of the Institute’s development will establish a DRI Centre focussed on care and public health research in 2018.

Read the MRC blog to find out how people affected by dementia helped with the director recruitment decision making process.

Two new members have been appointed to the Council of the Medical Research Council (MRC) by the Minister for Universities and Science, Jo Johnson. Professor John Iredale and Professor Irene Tracey, have been appointed as scientific members. The appointments are with effect from 1 December 2016.

Biographies of new members

Professor John Iredale, University of Bristol

Professor Iredale is Pro Vice Chancellor Health at the University of Bristol and he holds the chair of Experimental Medicine. He also holds Honorary Consultant contracts with the North Bristol NHS Trust and the University Hospitals Bristol Foundation Trust. Previously Professor Iredale was the Regius Professor of Medical Science, Dean of Clinical Medicine and Vice Principal Health Services at the University of Edinburgh where he led the Medical School. He has previously held the Chair of Medicine in Edinburgh (2006-2013), and at the University of Southampton he held the chair of Medicine (2004-2006) and a Personal Chair in Hepatology (2000-2004).

Professor Iredale graduated from the University of Southampton with honours and Clinical Distinction in 1985 and was awarded a DM in 1995. He was made: a Fellow of the Royal College of Physicians of London in 1999; a Fellow of the Academy of Medical Sciences in 2003; and a Fellow of the Royal Society of Edinburgh in 2011.

Professor Iredale’s research interests are focused on tissue scarring and regeneration. For 10 years, he has been the scientific chair of the UK’s leading liver disease research charity, The Children’s Liver Disease Foundation, and he will take over as chair of the Lister Prize Fellowships in 2017.

Professor Iredale established the Edinburgh Clinical Academic Track Scheme (ECAT) to create a mentored “cradle to grave” training scheme for the best aspiring clinical academics. He has also played a major role in the AMS mentoring programme, and was one of 20 experienced mentors selected to pilot the Royal Society/AMS Sustain Scheme to support women in science. Professor Iredale has recently been invited by the Department of Health to Chair the Oversight Committee for the review of NIHR Training Schemes.

Between 2010 and 2016, Professor Iredale was Non-Executive Director of NHS Lothian and, in addition to MRC Council, currently holds another public appointment as non-executive Director of the North Bristol Trust. 

Professor Irene Tracey, University of Oxford

Professor Tracey holds the Nuffield Chair of Anaesthetic Science and is Head of the Nuffield Department of Clinical Neurosciences at the University of Oxford. Professor Tracey did her undergraduate and graduate studies at the University of Oxford from 1985-1993 and then held a postdoctoral position at Harvard Medical School until 1996. In 1997, Professor Tracey helped to co-found the now world-leading Oxford Centre for Functional Magnetic Resonance Imaging of the Brain (FMRIB) at the University of Oxford and was its Director from 2005 until 2015. She was also Head of the Nuffield Division of Anaesthetics and an Associate Head of the Medical Sciences Division at Oxford prior to taking up her current post. Over the past 18 years her multidisciplinary research team has contributed to a better understanding of pain perception, pain relief and nociceptive processing within the injured and non-injured human central nervous system using advanced neuroimaging techniques. More recently, they have been investigating the neural bases of altered states of consciousness during anaesthesia.

Professor Tracey has served and continues to serve on many national and international committees and was Deputy Chair of the MRC’s Neuroscience and Mental Health Board until 2014. In 2008 she was awarded the triennial Patrick Wall Medal from the Royal College of Anaesthetists, and in 2009 was made a Fellow of the Royal College of Anaesthetists for her contributions to the discipline. In 2015 she was elected a Fellow of the Academy of Medical Sciences.

Wednesday, 21 December 2016 15:48

The UK Pharmacogenetics & Stratified Medicine Network is all about collaborations involving academics, clinicians, industry partners and regulators, but always with patients at the centre.

The following message came to us from Virgil Anderson, a mesothelioma patient from the US.

"I was recently diagnosed with mesothelioma, which is a cancer caused by exposure to asbestos. From automotive to demolition work, I’ve had many jobs in my life that contributed to my exposure. On some jobs, the air was so thick with debris and asbestos you could taste it in your mouth.

"When I was diagnosed with mesothelioma I needed immediate medical attention. I found a few websites on the internet that are supposed to help people with my type of cancer but nobody got back to me.

"Then I found Even though I contacted them on a Sunday one of their patient advocates gave me a call back within minutes. They gave me a great deal of helpful information on doctors and resources available to me.

"As a result of their website I am now being treated at the National Cancer Institute and the patient advocates have even provided me with financial assistance so I could afford a place to live during my cancer treatments. If I had not reached out to this website I would likely be homeless and more importantly in hospice waiting to die. These people gave me my only chance at survival.

", unlike many other mesothelioma sites, actually provides support to anyone outside the U.S so long as their exposure to asbestos came from American-made products-- which many times is the case. has already assisted asbestos victims from various parts of the world and continue to extend their support worldwide."

An important reminder of the patients who are living with the diseases we are all working to defeat.

Wednesday, 07 December 2016 14:47

Genetic Alliance UK, as an organisation striving to improve the lives of patients and families affected by all types of genetic conditions, aimed to gather patient perspectives on the ethical use and regulation of genome editing technologies.The results of their survey have been published in their report: "Genome Editing Technologies - the patient perspective".

They found that patients are interested in genome editing technoloiges and would like to learn more about them. The survey also revealed that patients welcome the use of genome editing technologies in research and clinical settings, but are clear that uses should be limited to treating medical conditions and not for the enhancement or alteration of physical or cognitive attributes of healthy people. 

Click here to read the full report.

Friday, 02 December 2016 14:54

The concept of personalised medicine is not new. Clinicians have been working to personalise care, tailored to people’s individual health needs, throughout the history of medicine. But never before has it been possible to predict how each of our bodies will respond to specific interventions, or identify which of us is at risk of developing an illness. New possibilities are now emerging as we bring together novel approaches, such as whole genome sequencing, data and informatics, and wearable technology. It is the interconnections between these innovations that make it possible to move to truly personalised care.

Technological and scientific advances are already here and will continue to develop and improve medical practice; change is inevitable. For the NHS, we must consider not whether we should go down the route of personalised medicine, but instead how we can best respond and adapt so that those who could benefit have the opportunity – regardless of where they live, the illnesses they have, or where their care is provided. Personalised medicine is important not only for the 1 in 17 people who have a rare disease, or for those living with cancer, but also for the many others who have or are at risk of developing other common diseases.

We are on a journey towards embedding a personalised medicine approach into mainstream healthcare. This document sets out what we mean by personalised medicine, and the approach we will take, working with our partners, so that we can embrace the future, whilst ensuring the ethical, equality and economic implications are fully recognised and addressed.

Click here to read more.

Monday, 07 November 2016 09:29

The UK Regenerative Medicine Platform (UKRMP) has awarded special merit prizes to two postdoctoral researchers who have demonstrated outstanding work on leading creative new approaches to help members of the Platform work together effectively and accelerate discovery.

The UKRMP aims to address the key translational challenges of regenerative medicine – a branch of science that aims to repair or replace damaged and diseased human cells and tissues. It brings together academic expertise, innovation and knowledge with commercial and clinical end-users.

Central to the Platform are five interdisciplinary and complementary research Hubs that collectively provide a national resource to researchers by generating new tools, protocols and resources that can be utilised by other UK research groups in both academia and industry.

Dr Mads Bergholt of the Niche Hub at Imperial College London and Dr Michael Barrow from the Safety Hub at the University of Liverpool, have been awarded these prizes for embracing the collaborative nature of the Platform and proactively identifying opportunities to advance the work of all collaborators across the Platform. Their work includes some of the exceptional research that makes the UK a world leader in the field of regenerative medicine.

Dr Mads Bergholt has led work across UKRMP Hubs around the application of a technique used to understand more about the make-up of materials – Raman spectroscopy – in stem cell behaviour and within regenerative medicine.

Dr Michael Barrow has facilitated research across UKRMP Hubs on tracking the delivery of stem cells. Tracking the distribution and viability of stem cells after injection is important to check whether cells have reached their desired target organ or location in the body. Michael has led research involving synthesis of nanoparticles which can be tracked using magnetic resonance imaging (MRI).

The UKRMP Hubs draw together the major players in UK regenerative medicine research in a dynamic relationship that is outward facing and open to new partnerships.

This week sees the inaugural UK Regenerative Medicine Conference open its doors to leading scientists. Delivered by the Platform, in partnership with leading UK research councils and the Cell and Gene Therapy Catapult, the event runs from 20 to 21 September and will cover topics ranging from tissue regeneration to methods of cell and tissue replacement.

Read more at the MRC website.

Monday, 07 November 2016 09:26

The inaugural UK Regenerative Medicine Conference opened its doors to leading scientists, showcasing the outstanding research that makes the UK a world leader in this fast-moving field.

Delivered by the UK Regenerative Medicine Platform (UKRMP) in partnership with UK Research Councils and the Cell and Gene Therapy Catapult, the two-day conference covered topics ranging from tissue regeneration to methods of cell and tissue replacement.

The conference brought together researchers from the UK and across the globe to present and discuss the latest advances in regenerative medicine. This interdisciplinary field has the potential to completely change the way we care for patients by helping to develop new treatments for a wide range of debilitating conditions.

Regenerative medicine also offers huge potential to support the UK economy; the sector in the UK is expected to create 15,000 jobs by 2020 and generate £5 billion of revenue by 2020. Statistics published by the Cell and Gene Therapy Catapult show that investment in the cell and gene therapy industry in 2015 was over £400m at year end compared to £35m in 2012.

There have already been significant clinical advances thanks to regenerative medicine, with products available for skin regeneration for burns patients, the treatment of anaemia, cartilage repair in the knee, and the treatment of ulcers in people with diabetes.

One example of UKRMP-funded research is the potential of using stem cells to treat sight loss associated with age related macular degeneration; the leading cause of blindness in people over 60 in the western world. Professor Pete Coffey, at UCL Institute of Ophthalmology, and his team are transforming cells taken from skin biopsies into stem cells. These stem cells will be converted into eye cells that will be transplanted back into patients’ eyes to preserve their sight. Stem cells from trial participants are currently being grown and it is hoped these can be transplanted to patients when regulatory approval is received.

A number of other regenerative treatments are also entering clinical trial, which should, in time, provide next-generation products offering treatments with long term benefits or cures for a range of conditions.

One of the presenters at the conference was Dr David Hay from the MRC Centre for Regenerative Medicine at the University of Edinburgh. Dr Hay’s work focuses on the use of human stem cells to produce liver cells in the lab. The liver plays a vital role in the detoxification of foreign substances from the body. Dr Hay’s research gives crucial insight into how the liver reacts to varying levels of drugs in the body.

The cells grown in Dr Hay’s lab could prove invaluable to industry in drug development as they can provide a consistent and easily reproducible supply of human cells. It is hoped that eventually an artificial liver could be grown using these cells that could work alongside the body’s liver. This would reduce the stress experienced during acute liver failure, allowing the body’s own liver to recover naturally.

Leading regenerative medicine researcher Professor Molly Stevens from Imperial College London is also presenting at the conference, discussing her work on designing and developing bio-inspired materials, tissue engineering and biosensing.

Read more at the MRC website.

Monday, 07 November 2016 09:25

Universities and Science Minister Jo Johnson today confirmed the reappointment of Mr Donald Brydon CBE as the Chairman of the MRC.

Universities and Science Minister Jo Johnson said:

“I am very pleased to reappoint Donald Brydon as Chairman of the MRC. His exemplary supervision since becoming Chairman, his unique business knowledge and his experience of chairing a range of different organisations make him ideally placed to continue leading the Council in their support of ground-breaking UK medical research.”

Donald Brydon said:

“I am delighted to be reappointed to the MRC, an organisation whose work has a direct impact on people’s lives across the globe. I look forward to helping build on the UK’s world leading research and continuing to play a part in the evolution of the Research Councils in the months ahead.”

The reappointment will run from 1 October 2016 until 31 March 2018.

The Minister also reappointed Baroness Onora O’Neill and Dr Menelas Pangalos to the MRC Council from 1 October 2016.

Read more at the MRC website.

Monday, 07 November 2016 09:24

The MRC has come together with seven other research funders to create an interactive ‘map’ of the funding schemes available to biomedical researchers.

The first of its kind focused on medical research, the ‘funding view’ takes the form of an interactive map, giving the user an easy way to navigate the UK biomedical research funding landscape.

It brings biomedical research funding opportunities together in one place, including funding schemes from the Alzheimer’s Research UK, Alzheimer’s Society, the British Heart Foundation, Cancer Research UK, the NC3Rs, the National Institute for Health Research and Wellcome.

The aim of the resource is to help members of the research community view and compare different funding schemes across career stages. It provides an outline and related links for each type of award, including the required level of experience, level of funding and duration.

We developed the ‘funding view’ based on feedback received via the ‘feedback function’ of our successful Interactive Career Framework, which we continue to update with new case studies. We also welcome feedback from the research community on this new resource.

Dr Jim Smith, MRC Deputy Chief Executive and Chief of Strategy, said: “As funders of medical research we know that scientists at all stages of their careers need to be aware of what funding opportunities are available to them. We have therefore created a simple, interactive guide that allows researchers to browse funding opportunities from eight major UK grant-awarding bodies. Alongside the MRC's Interactive Career Framework, I recommend that anyone embarking on a career in biomedical research should use this resource to help guide their career.”

Read more on the MRC website.

Monday, 07 November 2016 09:21

Researchers from the Medical Research Council (MRC) Cancer Unit at the University of Cambridge have identified a genetic signature related to metabolism associated with poor patient prognosis. The results of the analysis of 8,161 tissue samples could in the future help clinicians decide how best to treat a patient as well as aid the development of new targeted treatments.

For cancer cells to grow and spread they undergo a complex metabolic transformation. This allows the cells to meet the energy needs for the cancer to proliferate. Increasing our understanding of the genes that underpin the changes to metabolic pathways will provide further insight into the events that lead to the spread of cancer within the body.

To this end, Dr Christian Frezza, programme leader, and Edoardo Gaude, a PhD student, from the MRC Cancer Unit, analysed the expression of metabolic genes across 20 different solid cancer types from 8,161 tumour and non-cancerous samples held in The Cancer Genome Atlas (TCGA).

The researchers found that genes related to the OXPHOS pathway - a metabolic pathway in the cell’s mitochondria that provides energy to the cell - were significantly down-regulated in the tumour cells from patients with poor clinical outcome. Furthermore, suppression of OXPHOS genes was linked to metastasis, where the cancer spreads to other parts of the body and is linked to even poorer prognosis. Although the link between OXPHOS genes and cancer survival has been found only to be an association at this stage, these results suggest that mitochondrial function might play an important role in metastasis and, therefore, patient prognosis.

Further work is needed to validate these results and to assess to what extent mitochondrial dysfunction contributes to the malignancy of cancer cells.

Dr Christian Frezza said: “Cellular metabolism is known to be a key part of cancer progression. In our work we used data on patient’s prognosis to identify a genetic signature related to metabolism that correlated with poor clinical outcome. Using this information, it could be possible in the future to tailor treatments specific to patients. This genetic signature also gives a new target for the development of drugs that could prevent a cancer from spreading throughout the body.”

Dr Adam Babbs, research programme manager for cancer at the MRC, said: “The work will inform future patient stratification efforts and demonstrates the important links between metabolism and cancer. Further validation of this work may allow us to predict with greater accuracy a patient’s long term survival and design a treatment strategy personalised to improve their chances of living longer.”

Read more on the MRC website.

Monday, 07 November 2016 09:15

Genomics plc, a leading analysis company developing an integrated platform to uncover the relationships between genetic variation and human disease, today announced that it has been appointed as Analysis Partner for the Genomics England Genomics Expert Network for Enterprises (GENE) Consortium. Genomics plc will be analysing genomes at an unprecedented scale and, together with the company’s existing knowledge base, be providing insights into human biology that will help to inform pharmaceutical R&D investment decisions.

Genomics England is delivering the UK 100,000 Genomes Project – whole genome sequencing rare disease and cancer patients in the National Health Service. Genomic information has huge potential to transform drug development pipelines, and one of Genomics England’s four main goals is ‘to enable new scientific discovery and medical insights’. To that end, in 2015, it set up the GENE consortium, which included major pharmaceutical companies such as Abbvie, AstraZeneca, Biogen, GSK, Roche, Takeda and UCB. With a focus on patients with rare diseases and cancers, over 13,000 genomes have already been sequenced and, within its secure IT infrastructure, de-identified data are being made available to Consortium participants to accelerate the development of new diagnostics and treatments for patients.

The power of genomic data to gain novel biological insights grows with both the scale of the data and the breadth of associated physical and biological information. Genomics England’s genetic information is increasingly linked to electronic medical records, a rich source of such phenotypic data, but one that adds many dimensions to the complexity of the analysis challenge.

Understanding and using such datasets to their full potential requires an in-depth understanding of genomics, sophisticated statistical analysis approaches, creative visual representations, computationally efficient algorithmic design, a dedicated IT infrastructure, and an expert team of scientists and IT engineers. Since its formation in early 2014, Genomics plc has been building a powerful platform combining these elements along with a database of genetic and linked phenotypic data on almost 3 million individuals that seamlessly integrates results from over 700 genetic studies across over 500 phenotypes, the largest dataset of its kind in the world. It is also collaborating with major pharmaceutical companies including Biogen, Eisai, Merck and Vertex, as it applies its integrated platform across all areas of pharmaceutical R&D, including target validation, assessment of on-target safety effects and discovery of repositioning opportunities.

Financial terms were not disclosed.

John Colenutt, CEO, Genomics plc, said: “We are excited to be working with Genomics England on the world-leading 100,000 Genomes Project. The use of human genetic data is increasingly recognised as a mechanism to transform productivity within the pharmaceutical and diagnostic research and development industry, and we look forward to working with the GENE Consortium, its members, and others within the sector to improve human health and reduce healthcare’s economic burden.”

Sir John Chisholm, Executive Chair, Genomics England, said: “The potential for genomics to transform healthcare, from better diagnoses to new drugs and treatments, is extraordinary, and we are delighted to work with Genomics plc, a proven leader in the field of genomic analysis, to maximise the value of the 100,000 Genomes Project for patients”.

Read more on the Genomics England website.

Monday, 24 October 2016 14:06

Genomics England will integrate the GO KMS as a key content driver to augment clinical reporting in the 100,000 Genomes Project’s cancer programme,  coupling Genomics England curated database with the GO KMS’s data for a comprehensive clinical report comprised of the most relevant drugs, prognoses, and clinical trials.

The GO KMS enables Precision Medicine by allowing users the ability to aggregate and analyse biomarker-based data.  The GO KMS leverages a large number of existing data sources including FDA, NCCN, and ASCO guidelines as well as providing exclusive API access to the expertly curated data of My Cancer Genome®. The GO KMS allows users to analyse genomic variants within a ‘genomics-aware’ framework that includes a diverse set of annotations including genes, pathways, drugs, alterations, transcripts, and a disease ontology.  In addition, the GO KMS is designed to empower researchers and clinicians alike to build and maintain their own curated knowledge repositories.

GO and Genomics England will work through an initial implementation phase that will focus on extending the GO KMS to include NICE Guidelines and UK-specific clinical trials, as well as a variety of other enhancements to support clinical reporting, leading to more personalised care for NHS patients.

Augusto Rendon, Director of Bioinformatics at Genomics England said: “GenomOncology brings to the table a widely used knowledge base, as the people behind My Cancer Genome. Their data was easy to integrate into variant annotation and interpretation pipelines due to their consistent variant nomenclature. Through exhaustive curation GenomOncology has made great progress in solving the difficult problem of representing cancer variants consistently in order to support genomic workflows”.

Click here for more information.

Wednesday, 19 October 2016 08:14

The Yorkshire & Humber Academic Health Science Network (AHSN) is supporting a pioneering research programme at Mid Yorkshire Hospitals NHS Trust aimed at reducing the risk of acute kidney injury (AKI) in patients requiring CT or MRI scans.

Currently patients who need a CT or MRI scan that also requires use of a contrast media or dye should have an up to date renal function test before they can have a scan. This is because the dye can cause acute kidney injury in some patients. If patients do not have an up to date renal function blood test, then it could mean their appointment has to be postponed, resulting in a potential delay in diagnosis as well as underuse of key NHS resources.

A team of radiographers and researchers at Mid Yorkshire Hospitals NHS Trust, with the support of the Yorkshire & Humber AHSN and the National Institute for Health Research Leeds Diagnostic Evidence Co-operative (DEC), is about to trial the latest point of care renal function blood test kits, comparing them to standard laboratory results.

This will ultimately allow for a redesign of the pathway so that patients can have a blood test at the same time as their appointment and the results will be immediately available to clinicians.

The programme will involve around 300 patients attending for standard outpatient blood tests. If the research programme is successful, it could result in new national guidelines being drawn up.

Carl Greatrex, Head of Innovation Adoption at Yorkshire & Humber AHSN, said: “We were able to identify three companies who were happy to provide the point of care testing kits and we have also funded part of the programme.

“This research could make a real difference to patient pathways. The Mid Yorkshire team has seen the potential that could be delivered and they are really committed to driving this important work forward.”

Dr Bev Snaith, a consultant radiographer from Mid Yorkshire, said: “Patients coming for a CT or MRI scan need a blood test to check for abnormal kidney function as the dye we inject can cause an acute kidney injury. If the point of care technology is shown to be effective, it can be tested in the imaging setting and hopefully reduce patient visits and scan waiting times.”

The three companies involved in the programme are: Abbott, Nova Biomedical and Radiometer.

It is estimated that the incidence of contrast induced acute kidney injury is approximately seven per cent, however it may be higher than 50 per cent if patients have risk factors such as chronic kidney disease, diabetes and nephrotoxic drugs.

Using point of care testing and ensuring all patients have an up to date renal function test at the time of their scans will help reduce this risk significantly.

The Yorkshire & Humber AHSN, through its Improvement Academy, hosted an Acute Kidney Injury Community Alert Roundtable meeting for GPs, Clinical Commissioning Groups (CCGs) quality leads and community staff.

The event, on Monday 18th July, provided attendees with an opportunity to learn about the latest evidence for community AKI management and treatment to improve outcomes for patients and to discuss barriers and ideas for improvement.

It was facilitated by Dr Sarah Harding, GP, Leeds South and East CCG, Dr Andrew Lewington, Consultant Renal Physician at Leeds Teaching Hospitals NHS Trust and Dr John Stoves, Consultant in Nephrology and General Medicine at Bradford Teaching Hospitals NHS Foundation Trust.

Dr Nick Selby, Renal Physician and Associate Professor of Nephrology at the University of Nottingham, Dr Ian Scott, a Nephrologist from Doncaster and Dr Mike Bosomworth, a Clinical Biochemist from Leeds, were guest speakers.

Click here to read the full story on the Diagnostic Evidence Co-operative Leeds website.

Wednesday, 28 September 2016 14:40

Personalised medicine is transforming healthcare across the world – a healthcare revolution driven by scientific and technical advances that is enhancing our ability to more precisely diagnose illnesses and target treatment of disease.

These advances are an intrinsic part of delivering the NHS Five Year Forward View and the NHS has the potential to become the first health service in the world to truly embrace personalised medicine across routine care.

NHS England published Improving Outcomes through Personalised Medicine at NHS Expo earlier this month. It sets out what we mean by personalised medicine, now and in the future, and the approach we will take, working with our partners, so that we can embrace new approaches, while ensuring that ethical, equality and economic implications are fully understood and addressed. These developments are being led within NHS England by Prof Sue Hill, Chief Scientific Officer for England.


For the document please see Improving Outcomes through Personalised Medicine

For the media release please see NHS England: Personalised Medicine

For a general overview please see the Radio 4 programme Personalised Medicine: Dose by Design


Wednesday, 28 September 2016 14:03

Two white papers dealing with Metabolomics have been published; one is entitled "Metabolomics enables precision medicine" and the other is entitled "Pharmacometabolomics informs pharmacogenomics".


Monday, 26 September 2016 15:30

The country’s 15 Academic Health Science Networks (AHSNs) have come together to deliver the AHSNs Atlas of Solutions in Healthcare: an online tool that shares proven innovations that are making a positive difference both to people’s lives and NHS efficiency. It seeks to showcase the best solutions from AHSNs across the country to help support spread at pace and scale. The solutions are organised by the three gaps identified in the FYFV. The AHSNs Atlas of Solutions in Healthcare is at

The Atlas is completely free to access and has advanced search functionality. 


Monday, 26 September 2016 15:25

The Academy of Medical Science has published the meeting report from the 2016 FORUM Annual Lecture on ‘What can research do to improve productivity in the NHS?’ The lecture was given by Dame Julie Moore, Chief Executive of University Hospitals Birmingham, who then joined a panel discussion, chaired by Professor Sir Robert Lechler PMedSci, with Dr Annette Doherty OBE, Rt Hon Stephen Dorrell, Dr Nicolaus Henke and Professor Sir Simon Wessely FMedSci.


The report summarises the key themes from the lecture and panel discussion, and can be downloaded from the Academy’s website via this webpage: Recordings of the lecture and panel discussion can also be viewed on the Academy’s YouTube channel.


Friday, 16 September 2016 13:51

The Academy of Medical Sciences have published two FORUM meeting reports, supported by NHS England, exploring the stratified medicine-based clinical approaches that the NHS could adopt for the treatment of diabetes and cardiovascular disease.

These meeting reports detail the discussions from two roundtables organised by the Academy, and supported by NHS England, which fed into NHS England’s vision for an approach to personalised medicine 'Improving outcomes through personalised medicine'. The proposed clinical pathways for a stratified approach in these disease areas can be used as exemplars for other conditions, facilitating the adoption of a stratified approach to patient care across the NHS.

The first roundtable meeting explored exemplar clinical pathways for a stratified approach to diabetes, specifically monogenic diabetes, while the second addressed a stratified approach to certain types of cardiovascular disease including familial hypercholesterolaemia and inherited cardiac conditions. Although the stratification of many types of cardiovascular disease and diabetes is relatively well understood at a molecular level, with established diagnostic tests and proposed clinical pathways for stratification, there are still challenges remaining to implementing a stratified approach across the healthcare system. Therefore these roundtables aimed to identify ways to address these challenges and to embed this approach in the NHS.

For the successful implementation of a stratified approach to both disease areas, participants strongly felt that there is a need for a national infrastructure that is able to address the current challenges around funding and standardisation of diagnostics. In addition, a systematic, informed approach to stratification of patients is key, and a clear economic case for the stratified clinical pathways to ensure equity of patient access across the country.

The roundtables highlighted that the implementation of stratified medicine in the NHS should be an iterative process, with the clinical pathways and infrastructure continuing to develop and refine over time. This is accompanied by the need for a general shift in mindset to recognise the spectrum of different types of stratification within a single disease, and building capability and capacity for such an approach within the healthcare system.

The reports from the roundtables on the ‘Exemplar clinical pathways for a stratified approach to diabetes’ and the ‘Exemplar clinical pathways for a stratified approach to cardiovascular disease’ can be downloaded from this page. For further information please visit the stratified medicine policy page and NHS England's personalised medicine page.

Friday, 16 September 2016 08:22

A clinical study supported by the National Institute for Health Research (NIHR) Clinical Research Network (CRN) has shown progressive results, which could change the current treatment practice for patients with pancreatic cancer.

The ESPAC-4 study (European Study Group for Pancreatic Cancer) is a randomised phase three study, looking at the effectiveness of two chemotherapy drugs versus one for post-operative pancreatic cancer patients. The study involved two chemotherapy drugs that are currently active against pancreatic cancer (gemcitabine and capecitabine) as one treatment option, against the drug gemcitabine alone, when delivered after surgery (which typically has a between 16 and 18% survival rate.)

Reported at the recent American Society of Clinical Oncology annual meeting the ESPAC-4 study has shown that the combination of gemcitabine and capecitabine as one treatment option, outperformed gemcitabine, which is usually provided alone.

ESPAC-4 has been delivered across several countries, including England, with the support of the NIHR CRN to deliver research in the NHS through a world-class infrastructure. Over 720 patients receiving treatment for pancreatic cancer in the NHS were able to participate in the study, which involved all 15 NIHR Local Clinical Research Networks (LCRNs) across 70 NHS sites.

The International media have reported on the breakthrough findings of the ESPAC-4 study, quoting the leading Investigator of the study, who has described the findings as “Changing practice around the world” and also that the dual chemotherapy treatment was not only a breakthrough in terms of overall survival, but also had ease of delivery and good tolerability.

To find out more about the cancer research studies that are supported by the NIHR CRN go to the NIHR CRN: Cancer website

Friday, 16 September 2016 08:13

The University of Manchester has celebrated the opening of an £18 million centre which will identify the unique markers of diseases such as cancer or arthritis.

The Stoller Biomarker Discovery Centre, funded by a philanthropic gift from the Stoller Charitable Trust, the Medical Research Council and in partnership with SCIEX, will help to industrialise the process of identifying these biomarkers in a stratified treatment approach.

"Essentially this is the future of healthcare – getting the right treatment to the right person at the right time and in the right dose,” said Professor Tony Whetton, Director of the new Centre. “Without the knowledge of biomarkers we won’t be able to identify which people need treatment or who will benefit from certain medicines, so this new centre underpins everything we’re doing in precision medicine in Manchester and beyond.”

Located at City Labs Manchester  in the midst of biotechnology companies, the Central Manchester University Hospitals NHS Foundation Trust and the University of Manchester, the new Centre is stocked with a large suite of high-end SCIEX mass spectrometers for measuring molecules in proteins (proteomics). The University of Manchester has also invested in a number of liquid chromatography and automated sample preparation components for the Centre, from SCIEX and other Danaher life science companies.

The Centre was officially opened during a special two day conference (14-15 June), which attracted some of the biggest names in medical research such as Dr Leroy Hood, Dr Leigh Anderson,and Professor Jennifer Van Eyk. President and Vice-Chancellor of The University of Manchester, Professor Dame Nancy Rothwell said: “Manchester has become a major hub for precision medicine and proteomics we are very grateful to the funders who have backed the cutting-edge work that is carried out by our scientists.As a result of their generosity, The Stoller Biomarker Discovery Centre will start work on addressing some of the biggest issues in medicine in an environment where these discoveries can move quickly to improve people’s lives.”

Click here to read the story on the labmate-online website.

Wednesday, 17 August 2016 10:40

The UKCRC Tissue Directory is now live for medical researchers wanting to source human tissue for their studies. The Directory is intended to be a first port of call for researchers needing human samples; it has functionality to search for both collections and capabilities. This means if it doesn't return what you need you can search for platforms with the potential to source it. 

Simply search for the type of tissue you want, view biobanks that have the samples you need, then message them about your research using the contact list.

Click here for more information.

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