Author: Rachel Penniston

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.