In conversations today, we overheard the experience of one person who has been a family caregiver to a loved one with HD, and who is now working in the field of HD research. This person, who was attending the HSG for their first time and who had been participating in the session on Practical Pointers and Perspectives on Huntington’s for Local Practitioners, said “I remember all this. We just had no idea that is what it was.” We asked this person (who requested to remain anonymous) to tell us more about this sentiment. What did she mean when she said that she had been “here” before?
This person had been a caregiver for a parent with HD, and has a sibling with HD. When they were in the session and talking about neuropsychiatry, it brought back a series of experiences and a life history of Huntington’s. We got to thinking, just how many other people involved in the field of HD research, and treatment and care were here because they too came from an HD family? How many generations of HD families have contributed to the knowledge base of how to care for someone with HD? HD is a multigenerational disease. It leaves a genetic legacy
This afternoon we had the chance to hear about Huntingtin lowering therapies. David Corey from UT Southwestern Medical Center discussed gene silencing mechanisms. We know that HD drugs are needed, but Huntingtin, or HTT, the mutant protein that causes HD, presents some challenges. We can trace the problems of HD back to this mutant protein. David described HTT as an “undruggable target.” This leaves gene silencing, essentially changing the way a person’s genetic makeup expresses HTT in body, as a possible treatment. Turn off that potential genetic legacy, and you can turn off the disease.
It’s this genetic legacy that brings us to where we are in the world of HD research. As we look to fix the mutant HTT protein, we have to get in to some sophisticated therapies like gene silencing. The science in to gene silencing is complex and time taking. Getting gene silencing therapies to work in the body takes a combination of delivery and safety. Gene silencing therapies have to get the best coverage in the regions of the brain affected by HD, but also have to make sure there are no effects on other proteins. Get the therapeutic intervention in to the brain, and keep it focused just on the mutant HTT.
Even though the gene for HD was discovered in 1993, gene silencing is just the beginning. That genetic legacy, that for generations of people when they were diagnosed with HD meant the end of their life, may be just the beginning of new cures. That genetic legacy could be on its way to saving lives, and curing HD. Oh yeah, the families living with HD have been here before. But where they’ve gotten us? That’s what’s new.
-Jared Husketh, contributor and director of clinical services for HD Reach