GENETIC TESTING (FREE) FOR SUSPECTED MONOGENIC SMALL VESSEL DISEASE
Cerebral small vessel disease (SVD) is the most common stroke subtype presenting as monogenic stroke. The most common monogenic type of SVD is CADASIL, due to NOTCH3 mutations. More recently other rare monogenic causes of SVD have been discovered, including CARASIL, Retinal Vasculopathy with Cerebral Leukodystrophy (RVCL) and COL4A1 and COL4A2 related arteriopathy. In addition there are many families with early-onset SVD with a Mendelian pattern of inheritance, in whom no known mutations have been detected.
Whole genome sequencing is transforming this field. It enables one to test for all known SVD mutations, and look for novel causes of SVD, in one assay. Its cost is falling rapidly and the NHS is currently evaluating whether it may be more cost effective than current testing of one gene at a time. Its role is being evaluated in this project
The Biomedical Research centre Inherited Disease Genetic Evaluation (BRIDGE) Consortium has been established under NIHR BioResource – Rare Diseases to discover causal variants for inherited rare diseases. BRIDGE-SVD offers whole genome sequencing to 250 patients, with the aims of:
- Detecting rare already known monogenic causes of SVD
- Identifying novel genes underlying familial SVD
The result of findings related to SVD will be fed back to referring clinician who can pass it on to the patient. All participants need to contribute is a blood sample and phenotypic information from their clinical records. Data can be collected by:
- Referral to Prof Hugh Markus at Cambridge – they can be seen in person or recruited by post. For referrals please contact Rhea Tan (yyrt2@medschl.cam.ac.uk)
- Via one of the recruiting centres in the UK