Category: NTGMC

North Thames colleagues join genomics research and innovation fellowship scheme

HEE North Thames Fellows
(from right) Jana Vandrovcova, Daniel Lindsay, Celine Lewis

Three colleagues from across the North Thames region have been selected to join a prestigious new research and innovation fellowship launched by Health Education England’s (HEE) Genomics Education Programme.

A reception attended by leaders in science and healthcare took place on 30 January at the House of Lords to celebrate the official launch of the Genomics Research and Innovation Fellowship Scheme.

The HEE funded scheme was created to increase the capability and capacity of the current workforce, by giving candidates an opportunity to actively engage with genomics research with the aim of bringing new-found knowledge and skills into practice within the NHS. It was first announced in November 2016 and, after a rigorous 10-month application process, nine successful fellows were announced in October 2017.

The three fellows and their research topics from the North Thames region include:

  • Celine Lewis – Exploring and enhancing decision making about genome sequencing among young people
  • Jana Vandrovcova – A search for the missing: the utility of whole genome sequencing in clinical grade diagnostics of hereditary neurological disorders
  • Daniel Lindsay – Germline alteration in cancer exomes/ genomes

Fellows will contribute to the work of the Genomics Education Programme and will also become active members of the Faculty of Genomic Medicine.

Full details of all the fellows are available here.

Rare disease day at London North West Healthcare

Staff at Northwick Park HospitalThe 100,000 Genomes Project team at London North West Healthcare NHS Trust celebrated International Rare Disease Day by hosting a stall at Northwick Park Hospital, to raise awareness of the Project among patients and staff. Scientists from the genetics laboratory were also on hand, to explain the recent advances in genomic technology and whole genome sequencing.

It was a fantastic day, and demonstrated the improved healthcare opportunities now available to people with rare diseases. Likewise, there were good news stories of people who have received a diagnosis through participating in the Project. Doctors from different specialties were also shown how to refer patients for recruitment, helping to integrate genomic medicine into routine patient care. The news that such a service-transforming project was underway within the Trust was received with a great deal of enthusiasm.

North Thames Genomic Medicine Centre celebrates Jeans for Genes Day by reaching 4000th participant

The North Thames Genomic Medicine Centre (GMC) has today announced that more than 4,000 people from the network have taken the opportunity to have their genome sequenced in the 100,000 Genomes Project. The North Thames GMC is one of 13 centres set up by the government to help researchers and scientists gain a better understanding of the genetic causes of rare diseases and cancer so that more effective treatments can be developed.

Professor Lyn Chitty, clinical lead for the NTGMC, said: “It is fantastic that so many people in our region have been able to take part in the project. By sequencing genomes, we have the ability to identify the cause of conditions that have previously been undiagnosed, helping understand these conditions better as well as offering the potential to develop more effective treatments.”

The programme is particularly powerful for people with undiagnosed rare diseases as it allows early diagnosis and helps conditions be managed more effectively. Earlier this year, the first children in the country received their diagnosis through the 100,000 Genomes Project at Great Ormond Street Hospital. As well as removing uncertainty for families, the results received through the project help people to consider future treatment options, social support and family planning.

The North Thames GMC will very soon see more results from genome sequencing being returned to clinicians and their patients. Watch this video to find out more about how the 100,000 Genomes Project can help people – Jessica’s Story. People who are eligible to take part in the project will be identified by their doctor and asked to if they would like to take part by providing samples for genetic sequencing.


About the North Thames NHS Genomic Medicine Centre

The North Thames GMC is a partnership between seven NHS trusts, led by Great Ormond Street Hospital. The partners are:

  • Barts Health NHS Trust
  • London North West Healthcare NHS Trust
  • Moorfields Eye Hospital NHS Foundation Trust
  • Royal Free London NHS Foundation Trust
  • Royal National Orthopaedic Hospital NHS Trust
  • University College London Hospitals NHS Foundation Trust (UCLH)

The centre primarily recruits patients from the north and east of London, Essex, Hertfordshire and Bedfordshire but, due to the wide geographical spread of rare diseases in the UK, it also collects samples from patients across the country who are referred for treatment at our hospitals.


National Training Consent Day

Join us in September to learn the skills and knowledge required to recruit and consent patients to the 100,000 Genomes Project.

HEE’s Genomics Education Programme in conjunction with the Birmingham Women’s Hospital Clinical Genetics unit and the West Midlands Genomic Medicine Centre (GMC) education team will be hosting a National Consent Training Day on Tuesday 20th September in central Birmingham.

The aim of the day is to introduce and demonstrate the use of a blended learning package that is designed to equip health professionals with the skills and knowledge required to recruit and consent patients to the 100,000 Genomes Project.

The package incorporates the Genomics Education Programme’s ‘Preparing for the consent conversation’ online training course and training materials that can be used in face-to-face sessions.

We would like to invite individuals from each Genomic Medicine Centre (approximately three from each centre) to attend this event. Ideally these representatives will be the individuals who will provide consent training within their GMC. Please email Charlotte Szczepanik if you would like more information or with the details of who will be attending. The location of the meeting will be confirmed in the coming weeks.

Championing recruitment to the 100,000 Genomes Project

Mehul Dattani - NTGMCThe Endocrinology Service at Great Ormond Street Hospital (GOSH) and University College London Hospitals (UCLH) is an extremely busy service that is predominantly outpatient based. The service provides care to a large number of patients with rare congenital disorders; the aetiology (causation) of the majority of these disorders is unknown. The major disorders that we look after are disorders of growth including complex forms of hypopituitarism, disorders of adrenal function, disorders of sex development, disorders of thyroid function, disorders of reproductive function, disorders of the pancreas and insulin secretion, and disorders of calcium homeostasis.

Investigators within the department are highly research active and have successfully identified a number of genetic causes underlying these disorders. However, overall, to date, only 10-25% of disorders have been explained in terms of aetiology.

Parents of our patients are extremely keen to understand their child’s condition, and in particular, what caused it. They often live in fear and with guilt that they may in some way have contributed to the causation of the condition. They also have a significant anxiety with respect to recurrence of the condition in future pregnancies, and even in future generations. So, the identification of an aetiological basis to the condition might allay their fears and mitigate their anxiety.

Importantly, we hope that the identification of a molecular pathogenesis to the condition using the 100,000 Genomes Project will allow an improved understanding of the conditions, the likely prognosis in terms of lifespan, associated morbidities and disease progression, and perhaps of greatest relevance to the patients and their families, novel therapies for these often highly devastating conditions.

This is why we have encouraged recruitment to the project and hope to continue to do so, helped by the families who are under our care and who want not only the best healthcare for their children, but also help future patients with similar disorders.

Professor Mehul Dattani is currently Head of Paediatric Endocrinology at GOSH, UCLH and UCL Institute of Child Health (ICH). He has an active clinical practice encompassing all areas of paediatric and adolescent endocrinology at GOSH and UCLH.

Get ahead and Master your Genomic Knowledge

Support your professional development by enrolling on one of the ground-breaking HEE-funded genomics courses.

The Genomics Education Programme (GEP) is the NHS’s method of ensuring its staff have the knowledge, skills and experience to ensure that the health service remains a world leader in genomic and precision medicine – particularly for NHS England Genomic Medicine Centres (GMCs) and their contribution to the 100,000 Genomes Project.

The Master’s in Genomic Medicine and individual CPPD modules have been developed to provide a multi-disciplinary and multi-professional course in genomics that can be applied to clinical practice and medical research. The Master’s or individual CPPD modules will enhance knowledge and skills in this rapidly evolving field.

The course itself will cover the following topics:

  • Introduction to human genetics and genomics
  • Genomics of common and rare inherited disease
  • Molecular pathology of cancer and application in diagnosis, screening and treatment
  • Pharmacogenomics and stratified healthcare
  • Application of genomics in infectious disease
  • Bioinformatics interpretation

Interested candidates can apply for the one year full-time, or a two year part-time Masters, or, if time or resource is limited, individual modules can be taken as CPPD. The GEP is funding more than 500 Master’s places across the clinical professions together with 1000 individual modules for CPPD.

The Master’s programme and individual CPPD modules are being delivered by a national network of nine universities covering England. If you are interested in completing either the Masters or individual CPPD modules please check your favoured university to obtain details of the programme modules, entry criteria and timing before going through the funding application process.

For more information about participating Universities, the Genomics Education Programme and our other free resources please visit:

Further information about the funding application process is available here:

Keep up with the latest developments in medicine with fully-funded Genomics CPPD Modules.

The Health Education England Genomics Education Programme (GEP) is offering NHS professionals fully-funded continuing personal and professional development (CPPD) modules as part of its work to ensure the health service remains a world leader in genomic and precision medicine.

These Masters-level modules have been developed as part of a multi-disciplinary and multi-professional course in genomics that can be applied to both clinical practice and medical research. They will allow professionals to enhance their knowledge and skills in this rapidly evolving field.

There are 16 different modules available covering the whole range of genomic medicine. These include:

  • Introduction to human genetics and genomics
  • Genomics of common and rare inherited disease
  • Molecular pathology of cancer
  • Ethical, Social and Legal issues
  • Advanced Bioinformatics

The modules are open to the full range of clinical professions and NHS managers and credits from individual modules can be built up into a Postgraduate Certificate or Postgraduate Diploma.

The courses are being delivered by a national network of nine universities across England. More details of the modules, eligibility criteria and how to apply are available on the Genomics Education Programme website.