In addition to ongoing clinical trials of Roche/Genentech and Wave huntingtin-lowering therapies, a number of other companies are developing drugs aimed at lowering levels of mutant huntingtin in the body and brain. These novel approaches rely on “gene therapy,” which refers to an addition, removal, or change in DNA or RNA that has the potential to treat a disease.
This concept can have different meanings for different diseases and different treatments. To promote wider understanding of this technology, which is sure to have wider medical reach in the near future, the American Society of Gene and Cell Therapy has created some excellent resources for learning about the basics of gene therapy. Stay tuned for some more resources specific to HD.
Last month HD Buzz also did a deeper dive into the specifics of gene therapy in HD and a few of the companies working on it.
HDBuzz: Protective Genetic Hiccups
This week, HD Buzz focuses in on an interesting recent discovery made by multiple HD research groups. Tiny changes in the CAG repeat part of the HD gene can have a large impact on the age at which symptoms occur. Read all about it here.
This Week in HD History
Speaking of variability in onset, there’s an interesting parallel in the anniversary of another discovery. 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 also influence when symptoms are likely to begin for different at-risk individuals. 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.
