100 000 Genomes Project

100 000 Genomes Project from Genomics England

Since 2013 Genomics England, part of NHS England, has been aiming to bring benefit to patients whilst still maintaining ethical considerations.  Patients with rare diseases and their families as well as patients with cancer are invited to participate.  This project should lead to new scientfic discoveries and promoting the UK Genomics Industry.

Click here for a the full list of rare diseases included on the project.  There are diagrams explaining the eligibility criteria for the 100 000 Genomes Project on the NHS Genomics Education Programme see here

If you would to nominate a rare disease please click here and fill out the form.

Below is map of the Genomic Medicine Centres throughout England. 


Map courtesy of NHS England.

If you would like to read more about this project please see this editorial - McGrath, J.A. (2016), Rare inherited skin diseases and the Genomics England 100 000 Genome Project. Br J Dermatol, 174: 257–258. doi:10.1111/bjd.14362