The HDSA Podcast, ChANGE-HD, This Week in HD History

This Month on The HDSA Podcast 

Last month, HDSA launched “The HDSA Podcast,” where HDSA President & CEO, Louise Vetter, gives listeners the opportunity to meet members of the HD community and get a behind-the-scenes look at the Huntington’s Disease Society of America. In episode 2, Louise talks to HDSA’s Director of Marketing & Communications, Chris Cosentino, about HDSA’s mission, the Guthrie legacy, and the meaning of “Family is Everything.” She is also joined by Robi Blumenstein, President of CHDI Foundation, an organization dedicated to HD research. They discuss CHDI’s work, the evolution of HD research, collaboration within the HD community, and more. To listen to the full episode, click here.  

ChANGE HD: Research to Improve Our Understanding of the HD Brain   

Young people with a parent or grandparent who has tested positive for or been diagnosed with Huntington’s Disease (HD) are invited to participate in ChANGE HD. This brain imaging study is led by the University of Iowa Hospitals and Clinics and has study sites in Iowa City, Houston, New York, Philadelphia and Sacramento. It focuses on young people ages 6-30 who have a family history of HD. HD is considered an adult-onset disease. However, research has shown that brain changes are evident before motor symptoms begin. In fact, the gene responsible for HD plays a role in brain development and is present throughout the lifespan. With gene knockdown therapy showing promise for treatment of HD, it is essential to understand how removing or disabling the gene could impact brain development. For more information on this study, view the research flyer here, review FAQ’s here, or visit the study website at www.changehd.org. 

This Week in HD History  

We’ve known since 1993 that a specific genetic mutation causes Huntington’s disease, and we know now that a variety of additional genetic and environmental factors can influence when symptoms begin for individuals who are gene positive for HD. 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.      

The researchers collected data and samples from 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.