Questions & Answers

Right now, the gene therapy is exciting. It’s in phase 3 of clinical trials, and the study is designed to determine if the drug will slow progression of the disease. The ultimate goal is to give this drug to people before they develop symptoms. But this gene is also involved in brain development, and it takes about 30 years for the brain to fully develop. 

We know from previous studies that the brain starts to change with this disease 15 years before you get sick. In order to prevent the disease, you’re going to want to give the drug as early as possible. A lot of people are assuming that if gene therapy works, we should give the drug to kids before they get sick. So, now we’re in this conundrum. Do we give it to kids? What happens if we knock down a gene that’s important for brain development? That’s why studying how the brain changes with this gene will help the ultimate goal of preventive gene therapy. 

The area of the brain first affected in HD is the striatum, and it’s a really vital part of the brain. The abnormal gene makes the striatum develop incorrectly, but during childhood there are other areas of the brain that come to the rescue, and you don’t have symptoms. The striatum is involved in movement, thinking skills, and emotional regulation. 

What we’re seeing is that it probably depends on the severity of your mutation. The mutation is dictated by this DNA “stutter.” Everybody has the HD gene. The longer the DNA repeat, the greater the mutation and the earlier the onset of disease. It probably means that people who have long repeats are going to need to be treated early in life because that really long mutation is affecting brain development. But for people with shorter repeats, we may not want to interfere with brain development until the age of 25 or 30. They’re likely not going to get the disease until later in life, and we may not want to interfere with development. That’s, in general, what our preliminary findings are suggesting. 

A: We’ve learned how strong they are. All of these kids have HD in their family, so they come in at risk for developing the disease. It means their mom or dad has Huntington’s, and that often means other people in their family are affected, too. It’s a devastating familial disease, and doing research means they have a chance to contribute. It’s just amazing to see their desire to help and to give of their own time. 

Phase 3 of clinical trials started in January [2019], and it looks promising. I think we’re within five years of having a breakthrough in treatment of this disease. It’s really hard for me to say “cure.” We’ve been waiting 20 years for this. The gene was discovered in ’93, and here we are on the precipice of a breakthrough. We’ve been saying that for a long time, and it’s a reality now. It’s exciting all around. 

Our patients still face stigma. That’s what started my whole career in psychiatry: the fact that most people don’t understand mental illness, and our patients get kicked to the curb of society. That’s still one of my primary goals: to continue to fight the stigma of mental illness, which is fighting for our patients. That will always be it

I lived on my family’s farm for 25 years, and I still commute a short distance to work at an absolute world-class institution. It’s in my own backyard, and it couldn’t be better. It’s absolutely the best of both worlds. Also, I had a total silver spoon in that my research training involved working with Dr. Nancy Andreasen. It doesn’t get much better than that.