Aims

To generate whole genome variation data on as many HD participants as possible who take part in Registry or Enroll-HD.

Projects

We are generating variant data using arrays of known variants throughout the genome and by direct sequencing. Variant genetic data can differentially influence different phenotypes, e.g. motor, cognitive or behavioural. Hence, variant data will be interpreted in the context of such phenotypes.

We highlighted the DNA damage response as an important modifier of HD age at motor onset.  This refocused our attention on the CAG repeat mutation rather than the Huntingtin protein.

Contact

Lead Facilitator:
Lesley Jones PhD, Professor Cardiff University,
MRC Centre for Neuropsychiatric Genetics and Genomics
Cardiff, UK

 

Associated EHDN Language Area Coordinator:
Leonor Correia Guedes MD, EHDN Lanco,
Portugal