VHL UK Ireland has granted £60,000* to Eamonn Maher, Head of the Department of Medical Genetics to establish a national registry for VHL disease and related disorders. After a rigorous application process, the new registry has been accepted to become part of the well established National Registry of Rare Kidney Diseases (RaDaR) initiative (see www.renalreg.org ). The design and content of the registry are being finalised and we are planning to incorporate PatientView into the registry (see https://www.patientview.org/). *The initial grant award was for £40,000 and an additional grant award of £20,000 was made March 2021 to continue the work.
December 1st, 2022 – The initial pilot phase of the registry has been completed and now wider participation is invited from all over the UK.
Anyone wishing to participate can contact Study Coordinator Katerina Stroud on phone: 01223 746716 or email: Katerina.stroud2@nhs.net or the Chief Investigator Professor Eamonn Maher eamonn.maher@nhs.net or add-tr.humgendis@nhs.net
March 1st, 2024 – A meeting of the “Inherited Renal Cancer Syndromes” Rare Disease Group of the RaDaR Registry was held recently and attended by RDG group members including Prof Eamonn Maher (RDG Lead), Mr Rupesh Bhatt, Dr Lucas Foggensteiner, Mr Graham Lovitt (VHL/UK Ireland), Prof Marc Tischkowitz and Dr Emma Woodward. The group heard that recruitment to the registry had started in Cambridge and has now progressed to other centres. To date, 311 participants have been recruited with a variety of conditions including von Hippel-Lindau disease, PTEN hamartoma syndrome, Birt-Hogg-Dube syndrome, HLRCC and others. Plans to complete recruitment at currently participating centres and to add new centres were discussed.
June 7th 2024 – Some of this Charity’s Grant Award funding went towards Huairen Zhang’s PhD studentship and the following article has now been published.
