On the 19th of November, 2016, the University of California San Francisco’s Memory and Aging Center hosted their 13th Annual Huntington Disease Research Symposium. This symposium featured the latest in research and therapies, allowing patients and families more information about combating the disease. A recorded video of the symposium is available online at:
The symposium opened with Julia Kaye, PhD of the Finkbeiner Lab, based at the Gladstone Institute of Neurological Disease. Dr. Kaye presented her lab’s work on whole genome sequence analysis (WGSA,) which focuses on finding single nucleotide polymorphisms (SNPs) in HD patients. SNPs are small, single-letter changes in the structure of DNA that can drastically alter the functioning of a gene. The goal of this research was to find SNPs in HD patients that affect the progression and severity of the disease. This was achieved by observing pluripotent stem cells generated from patient skin samples, and how they fared when grown in the lab. Their survival was then correlated with data from WGSAs of the same patients, which were collected from blood samples. This research has promise for designating new targets for further study, but it is very early in development.
Lisa Ellerby, PhD from the Buck Institute for Research on Aging, presented next. Like the Finkbeiner Lab, Dr. Ellerby’s team is also attempting to discover targets for further study. Their work is centered around genetically correcting the Htt mutation in pluripotent stem cell lines derived from HD patients. While the ultimate goal in this research is to develop a therapy centered around transplanting corrected cells into the patient, for now Dr. Ellerby’s team is utilizing these cell lines to research a myriad of other therapeutic molecules and their potential in HD research.
Following Dr. Ellerby’s presentation, Vicki Wheelock, MD of the HDSA Center of Excellence at UC Davis presented her team’s findings from a novel lead-in study in HD. In earlier research, the protein BDNF (brain-derived neurotrophic factor) was discovered to promote the survival of striatal neurons and trigger the recruitment of new neurons, along with several other therapeutic effects. Levels of BDNF are found to be distinctly low in HD patients, marking the compound as a strong therapeutic candidate. Teams at UC Davis have since developed a line of bone marrow stem cells engineered to produce BDNF, tested these cells in mouse models, and developed a clinical protocol for testing this therapy in human patients. To test the effectiveness of a BDNF therapy in HD patients, a lead-in study was necessary to establish a baseline for HD progression. At this symposium, Dr. Wheelock presented her teams findings from such a study, designed to measure baseline differences between HD patients and the general population in a number of factors. This lead-in study lays the groundwork for future research not just on this protein, but for HD clinical research in general.
Alexandra Nelson, MD, PhD of the HDSA Center of Excellence at UCSF finished out the morning session with an overview of current clinical trials in HD. One of the drugs reviewed, Deutetrabenazine, has the capacity to become a more stable version of Tetrabenazine, a drug that manages some of the motor symptoms of HD. Other trials, like Signal-HD, seek to reduce brain inflammation, and slow down HD progression. Many of these new treatments are currently entering clinical safety trials, a promising and exciting step toward getting them into market.
The afternoon session of the symposium started off with a presentation by Kevin Barrows, an Integrative Medicine Physician. Dr. Barrows spoke of the benefits of practicing mindfulness to reduce the severity of some HD symptoms. Mindfulness therapy, which focuses on the intentional reflection and examination of one’s self, has been shown to have many benefits for HD patients, including decreased stress, anxiety, and depression, and increased bodily awareness. Dr. Barrows talked about mindfulness not only for HD patients, but also as a useful strategy for caregivers to take care of themselves.
Dr. Barrows presentation was followed by several breakout sessions, held two at a time. These presentations covered topics including staying active with HD, using music therapy to improve care for HD patients, managing difficult behaviors that arising from HD, and a brief overview of HD genetic counseling. The closing breakout session was a panel discussion with Natasha Boissier, LCSW, Andrea Zanko, MS, LCGC, and Alexandra Nelson, MD, PhD, focusing on how living with gratitude can improve the lives of HD patients.
The symposium brought members together from all over the HD community. Researchers, caretakers, therapists, patients, and their families were all involved in lending to the atmosphere the enthusiasm that permeated the event. In its 13th year the symposium continues to bring together patients and the researchers who fight for them, working together for hope.