By Francie Williamson, Communications Coordinator, Department of Psychiatry
Holly Jensen of Menlo, Iowa, knew from a young age that Huntington’s disease (HD) would play a role in her life.
When she was about six years old, her father tested positive for the mutation in a gene called Huntingtin, which causes HD. Then, when she was in middle school, her second oldest sister was diagnosed with Juvenile Huntington’s disease (J-HD).
Jensen knew she wanted to get tested for the genetic mutation too. But if you aren’t showing symptoms, you have to wait until age 18 to be tested.
“I had the mindset that if this was something I was going to tackle, I wanted to know, so I could try to prepare myself for it the best I could,” she says.
After she turned 18, Jensen went to University of Iowa’s Huntington Disease Center of Excellence, where she had a counseling session before undergoing testing. She ended up testing positive as well.
“Getting the results was heartbreaking,” Jensen says. “I remember my mom slamming her fist on the table and being so upset, and saying ‘when will this end?’”
UI Center of Excellence
HD is an inherited disease that is both progressive and ultimately fatal. During its course, people with HD experience three types of symptoms that worsen across time: Inability to control bodily movements; mood disturbance and other psychiatric changes; and decline in cognitive abilities. When a person has a parent with HD, that person has a 50% chance of having the genetic mutation that leads to development of the disease.
Peg Nopoulos, MD, chair of the UI Department of Psychiatry, has dedicated much of her career to the care of HD patients, as well as study of the mutation in the Huntingtin gene.
“Given that HD is a single-gene disorder, there has been a tremendous effort to understand the disease in hopes for gene therapy to treat it,” Nopoulos says. “I became interested in the study of how this gene may affect brain development, knowing that the gene was so vital – if you ‘knock the gene out’ or delete it in an animal model, it isn’t compatible with life – the baby mice don’t develop normally.”
In 2019, Nopoulos and her study partners received a five-year, $18 million grant from the National Institute of Neurological Disorders and Stroke to expand a decade-long study on brain development in children at risk of developing HD. The study, called ChANGE-HD, is being conducted at UI as well as at academic medical centers in Sacramento, Houston, New York and Philadelphia.
“Our early studies on children at risk for HD took many years to develop and grow,” Nopoulos says. “The transition from our previous study of at-risk children to the current ChANGE-HD multi-site program has been a fantastic growth of our research.”
Sonia Slevinski, a clinical research manager for the Center of Excellence, says the ChANGE-HD team continues to recruit new participants, and also is bringing people in for their second and third visits with the team. Those interested in taking part in the study should email change-hd@uiowa.edu.
Taking part in studies
Jensen says her family is very involved in all of the HD studies being undertaken at UI, as well as studies at University of Wisconsin-Madison, where UI Professor Emerita Jane Paulsen now works.
“My mindset is that I’ll do whatever they need me to do,” Jensen says. “I’ve done spinal taps, MRIs and countless blood draws.”
Nopoulos says it’s amazing how to see how much patients want to contribute to research.
“The HD research community is highly integrated, meaning that patients and families work closely with doctors and researchers. Everybody works together and are reciprocally inspired,” Nopoulos says. “I’m moved by the patients and families that suffer this disease, and patients and families are motivated by the research community and progress thus far. Both groups, working together, foster an incredible passion for hope. I love being part of that.”