The month of May might be drawing to a close, but it’s not too late to turn up the volume on HD and raise awareness in your community! Head to HDSA’s YouTube channel to see HD spotlighted in your favorite TV shows like Breaking Bad, Scrubs, NCIS, and more. Check out HDSA’s “31 Days, 31 Stories” series for personal stories from members of the HD Community, including Dr. Amber Southwell, a leading HD researcher. And lastly, learn more about how to rally your local legislators in the fight against HD by passing the HD Parity Act at hdsa.org/takeaction.
As HD Awareness month nears its end, HDSA is just gearing up for its 37th Annual HDSA Convention! Join us in Atlanta, GA, from June 9-11 for presentations from experts in HD research and clinical care, and an HD community reunion 3 years in the making. To learn more about attending in person or joining virtually from home, click here.
Move to Improve: Drs. Deb Kegelmeyer and Anne Kloos talk PT for HD
The manifestations of HD are diverse, but for many, they include impacts on movement. Drs. Deb Kegelmeyer and Anne Kloos from The HDSA Center of Excellence at The Ohio State University recently joined Lauren Holder on the Help4HD podcast to talk about movement symptoms of HD, and how people with HD can benefit from physical therapy in every stage of the disease. The group also discussed PT research studies for HD, including “Move to Improve,” a study of the effects of dance exercise for HD. Even better, these exercise routines are set to music and available via telehealth, making them accessible to anyone, regardless of their proximity to the University. To listen to the full podcast episode, click here. To learn more about Move to Improve, visit HDTrialfinder.org.
This Month in HD History
In May of 1997, a few years after the CAG repeat mutation that causes Huntington’s disease had been discovered, scientists and doctors made another important observation about the HD gene. The team examined the brains of 89 people who had died of HD, and found that the more CAG repeats a person carried, the earlier the onset of their HD symptoms and brain pathology. This general relationship between mutation length and age of onset has been confirmed many times in the past 20 years. However, there’s a huge amount of variability – sometimes two people with the exact same CAG repeat length show symptoms at different ages. The question of why has been a great mystery within the HD field, and researchers (including HDSA Fellows) now have the tools to explore genetic and environmental clues to uncover other modifiers of HD onset and progression. The ultimate goal is to harness this knowledge to develop therapies that delay onset of the disease.
The original study about CAG repeat length relied on many individual brain donations, and many current HD research studies on the human brain depend on extraordinary individuals and families who make the decision to donate. If you’re interested in learning more about brain donation, click here or email HBTRC@mclean.harvard.edu.