HD made big news this week with a story in the New York Times about Dr. Nancy Wexler of the Hereditary Disease Foundation, who spearheaded the hunt for the HD gene. After decades of effort in the research field that have made possible many of today’s discoveries, Nancy was finally ready to share that she has HD, both in this article and in a series called “The Gene” that will air on PBS.
British war correspondent Charles Sabine also spoke publicly about having HD. After 26 years in journalism, Sabine left to become an advocate and has spent the last 15 years bringing public awareness to HD and HD research. In this article he spoke about his genetic testing process and his ongoing participation in the Phase 3 Roche trial of RG6042, now known as tominersen.
DNA Editing in the News
There was a lot of buzz this week around a story on NPR about the use of CRISPR to treat an inherited eye disorder. CRISPR has mostly been a research tool that scientists can use to edit DNA and better understand how genes function. More recently it is being explored, cautiously, as a therapy for genetic disorders. For example, one patient with a painful blood disorder called sickle cell anemia showed promising progress after CRISPR treatment in late 2019. But the gene editing, in that case, happened outside her body – doctors removed bone marrow cells from her blood, made the genetic edits, and then delivered those blood cells back into her body.
The more recent NPR story talks about the first use of CRISPR to edit a gene in cells inside the body, specifically the eye. It’s also a very early safety trial, but the reporters mentioned that if the trial is successful, it could pave the way for other genetic diseases, like HD. While the potential for a locally delivered genetic therapy is encouraging, this does not necessarily have current implications for HD therapy. A lot more work needs to be done to ensure that DNA editing techniques like CRISPR are possible (not to mention safe) on the huntingtin gene in humans. That said, scientists are constantly coming up with new ways to explore this approach. A recent story, also on NPR, mentioned a technique called Prime Editing, which is a promising alternative to CRISPR. Although CRISPR itself isn’t ready for prime time in diseases like HD, which affect deep areas of the brain, let’s not forget that there are multiple other genetic therapies in current HD clinical trials, which may be safer, and also have great therapeutic potential.