Summary
- This Week in HD History
- What motivates someone to seek anonymous predictive genetic testing?
- Research Participation opportunity: Improving medical products and services for people with HD
This Week in HD History
Early November holds two historic milestones in HD research. The first occurred in 1985 before the discovery of the gene that causes HD; neurologist Jean-Paul Vonsattel, MD, and his colleagues published a classification system to understand how HD affects the brain. Using donated brain tissue, the researchers were able to develop a standardized way to link symptoms with signs of brain damage. Brain donation remains a critical tool to improve our understanding of HD. If you’re interested in learning more, click here, or visit HDTrialfinder.org.
The second achievement came to fruition in 1996 when Dr. Gill Bates and her lab in England published the first successful mouse model of HD. By genetically modifying a mouse with a small piece of the human huntingtin gene that contained the disease-causing CAG-repeat mutation, they were able to induce HD-like symptoms. This mouse model is still used today, and paved the way for many animal models that followed in a diverse array of species to help us understand HD.
What motivates someone to seek anonymous predictive genetic testing?
Anonymous testing refers to measures that are taken to exclude identifying information about a person undergoing genetic testing so that their test results are not linked to their legal name or medical record. Researchers at the University of Texas Health Science Center Houston are conducting a study to better understand the motivations, barriers, and attitudes of pursuing anonymous genetic testing for HD. If you are at-risk for HD and have not undergone genetic testing, or you are an individual who has completed genetic testing for HD, you may be eligible to participate. This study involves an online survey which will take approximately 10-15 minutes to complete. This study is voluntary and anonymous. You can refuse to answer any questions asked on the survey. Participants will be entered into a drawing to win an Amazon gift card. To learn more about and take the survey, click here, or view the study flyer here.
Research Participation opportunity: Improving medical products and services for people with HD
Rare Patient Voice connects patients and caregivers with the opportunity to voice their opinions through paid surveys and interviews to improve medical products and services. There is a current research opportunity for Huntington’s Disease patients and caregivers living within the United States, involving a 60-minute phone interview, with $120 compensation. To participate, you will need to follow this link to sign up with Rare Patient Voice: https://rarepatientvoice.com/hdsa/. Then you will receive an email invite to a screening survey to see if you qualify. You may also receive emails in the future about other opportunities to participate.
