Several groups of scientists have reported recently on how CAG length “hiccups” or expansions during life can influence the age of onset of symptoms. Interrupting or shortening a long stretch of CAGs can delay the onset of symptoms, and the addition of CAGs in certain cells during the course of a person’s life can cause symptoms to come faster. HDSA is funding work around this important topic through this year’s HD Human Biology Project, including work led by Dr. Darren Monckton at the University of Glasgow, Scotland. These types of observations in the past few years have even led to the formation of new biotech companies that are trying to turn this knowledge into future therapies. 


Understanding the intricacies of human DNA in the HD field is made possible through large-scale observational studies, such as Enroll-HD. The samples and time donated by HD families have been essential to the discoveries that are now real medicines. To talk more about recent findings around CAG repeat expansion and the genetic modifiers driving age of onset, HDSA has invited Dr. Jim Gusella to present a research webinar. Dr. Gusella was a key member of the team that originally discovered the Huntington’s disease gene.  


The webinar will take place on Tuesday, November 19th, from 12-1 pm Eastern time. Click here to register.  


HD Insights Podcast 


The Huntington Study Group created the HD Insights Podcast to share close conversations with clinicians and researchers about their career journeys and their experience with HD. This week the podcast presents an interview with Dr. Victor Sung, who leads the HDSA Center of Excellence at the University of Alabama, Birmingham. The conversation was recorded at this year’s HDSA Convention in Boston. Dr. Sung is a devoted clinician and advocate in the HD community. He summarizes the state of HD research and its exciting shift in the past decade towards disease-modifying therapies. He also talks about HDSA’s work and collaborations with other HD organizations, and how supporting the resiliency and engagement of HD families and scientists has shaped his career.  


This Week in HD History: First HD Mouse Model 

In early November of 1996, the first successful genetic mouse model of Huntington’s disease was published by Dr. Gill Bates’s laboratory in England. Her team created a genetically modified mouse that had only a small piece of the human huntingtin gene, containing the disease-causing CAG repeat mutation. To their surprise, the mice got sick with HD-like symptoms. This model is still used today, and importantly, it paved the way not only for the many animal models that followed, but for the insights that led to today’s therapies in development. A diverse array of species is now helping us to understand the huntingtin mutation, the reasons why it causes disease, and how we can best combat HD.