VHL UK Ireland has granted £60,000* to Eammon Maher, Head of the Department of Medical Genetics for this study which is paramount to the understanding of genetic conditions such as VHL and other kidney genes. Please find a progress update below.
The 100K genomes project is a world-leading genomics study performed in the UK that has provided more than 100,000 whole genome sequences on individuals with a variety of rare diseases and cancers (including more than 1,000 kidney tumours). We are analysing the genetic alterations in VHL and other kidney genes in order to better classify the genetic variations in these genes. The results from these studies will make an important contribution to international efforts to improve genetic diagnosis of VHL disease and related disorders. *The initial grant award was for £40,000 and an additional grant award of £20,000 was made March 2021 to continue the work.