To generate whole genome variation data on as many HD participants as possible who take part in Registry or Enroll-HD.
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.
Publications directly arising from this work
Publications arising from additional work of the working group
Meeting notice: Joint working Genetic Modifiers Working Group, Genetic Counseling & Testing Working Group and Incidental Findings Task Force meeting
Thursday 15th September 2022, 13.00 – 17.00
Location: room Magenta B, Bologna Congressi S.r.l (if you would like information about joining remotely please let us know)
Application of genetic modifier of Huntington’s disease data in the clinical setting: promise, pitfalls & development of a framework.
Meeting agenda: PDF
Meeting contact: Kristina Becanovic EHDN Lanco, Sweden