Today, March 26th, in 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. Integral to this discovery was a huge community of families affected by HD in the Lake Maracaibo region of Venezuela, as well as families in the USA, who donated their blood and their time so that the researchers could study their genes and connect the dots. The 20-year Venezuela study was championed by Nancy Wexler, and when the gene was finally identified, the published paper had nearly sixty individual authors. Today, there are three human clinical trials focused on therapies directed at the HD gene itself, with dozens of companies working on similar approaches to decrease levels of harmful huntingtin protein. This progress was made through extraordinary collaborative effort among researchers and families.
HD Featured in Nature Magazine
A recent article in the journal Nature discussed advancements in genetic therapies for HD, including clinical trials being conducted by Roche, Wave, and uniQure, and the formation of new companies exploring novel approaches to huntingtin-lowering and combating CAG repeat expansion, like Atalanta and Triplet Therapeutics. Though the article appears in a scientific publication, it presents a clear summary of current activity in the HD research space. It’s also encouraging to see HD advancements recognized in a journal with very wide scientific readership.
HD Insights Podcast
The Huntington Study Group releases regular episodes of a podcast featuring one-on-one interviews with doctors, researchers, and other professionals shaping HD science and HD care. This week, Dr. Mary Edmonson shares her story. She is an internist and psychiatrist as well as the founder of HD Reach, an organization that aims to improve advocacy and care for people with HD in North Carolina. Dr. Edmonson talks about how her father’s struggle with HD inspired to commit her life to understanding and treating it, how Marjorie Guthrie enabled her to mobilize her own family and community to talk about HD, and the challenges of running a nonprofit and providing a rare disease community with social support. Importantly, she also discusses how the HD community is being impacted by COVID-19 and what patients and families can do to cope with the added stress of the current circumstances. (Minutes 40 – 46 are particularly inspiring).