HDSA-supported researcher Dr. Amber Southwell is featured this week in an article about huntingtin-lowering. Her lab’s recent publication showed that an antisense oligonucleotide (ASO) designed to lower mutant huntingtin improved cognitive and behavioral problems in HD mice. Dr. Southwell was a 2015 HD Human Biology Fellow, and with HDSA’s support was able to transition to a faculty position at the University of Central Florida. She is committed to HD research and is now training the next generation of undergraduate and graduate scientists in the field. Her recent work is one of many new approaches to huntingtin-lowering that show promise for many facets of HD symptoms, but it is not yet at the stage of human trials.
Huntington Study Group Conference
The Huntington Study Group facilitates HD research trials all over the globe – it is a network of researchers and medical professionals that carry out clinical trials. Their annual conference is this week in Houston, Texas, and will feature talks on recent clinical developments, continuing medical education opportunities for providers, and a family education day. HDSA staff representatives are headed there from November 8th – 11th to learn, participate, and connect with other attendees.
This Week in HD History
In early November of 1996, the first successful 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 for the many animal models that followed. 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.