On April 6th at 12 PM ET, join HDSA’s Chief Mission Officer, Dr. Arik Johnson, and Assistant Director of Research and Patient Engagement, Dr. Leora Fox for a review of the accomplishments and milestones achieved in HD Research in the last year. Dr. Johnson and Dr. Fox will share the highlights of HDSA’s research portfolio, as well as major updates on the HD Research pipeline. Sign up to reserve your spot today here.
HDSA now accepting Letters of Intent for 2022 HD Human Biology Project Fellowship
HDSA is proud to announce the 2022 Request for Proposals for the HD Human Biology Project. Despite the identification of the gene responsible for Huntington’s disease (HD) more than 25 years ago, there is not yet an effective treatment to slow or stop the progression of symptoms. While remarkable advances in HD biology have been made using animal models, the development of effective therapies requires research in humans. As a result, HDSA has adopted a patient-centric research strategy to push the HD field closer to slowing progression and onset. HDSA’s HD Human Biology Project is the cornerstone of this strategy, with the aim of better understanding the biology of Huntington’s disease as it occurs in humans. This one-to-two-year funding mechanism is open to researchers around the world, and provides up to $75,000 of annual support to research conducted in collaboration with HD clinics across the globe. To learn more, click here.
This Month in HD Research
On March 26th, 1993, the discovery of the CAG repeat mutation that causes Huntington’s disease was published. The authors were the Huntington’s Disease Collaborative Research Group, an assembly of scientists across six institutions. Around 1984, the search had been narrowed to a certain “neighborhood” on chromosome 4, but it took another decade to determine that the cause of HD is a CAG repeat mutation in the huntingtin gene. The 20-year study was championed by Nancy Wexler, and when the gene was finally identified, the published paper had nearly sixty individual authors.
While we’ve known since 1993 that a specific genetic mutation causes Huntington’s disease, we now know that a variety of additional genetic and environmental factors can also influence when symptoms are likely to begin for gene carriers. This idea gained strong scientific support in March of 2004, when a consortium of researchers led by Dr. Nancy Wexler published a paper confirming that HD onset is unpredictable and depends on both genetics and lifestyle. The paper itself is pretty dense, but the takeaway is simple: HD is a family disease, and it’s not just about CAG repeats.
Data for both of these historic discoveries was collected thanks to thousands of willing participants living along the shores of Lake Maracaibo in Venezuela, a massive contribution of HD families that has fueled discoveries about HD for 25 years. It’s a testament to the great power of large-scale observational studies (think Enroll-HD), which today hold the keys to speedier drug development.