Kala Booth, a Huntington’s disease positive individual and caregiver to her mother, will appear TODAY before the House Committee on Energy & Commerce subcommittee on neurodegenerative diseases. Kala will discuss her experiences in clinical trials for HD, caregiving for her mother, applying for disability, and the community’s need for passage of the HD Parity Act to waive the two-year waiting period between being deemed eligible for SSD benefits and actually receiving Medicare coverage. This is an incredible opportunity to gain government and public visibility around the struggles faced by the HD Community when accessing care, support, and research opportunities. To learn more about the meeting and view the live stream beginning at 11AM EDT, click here.
Help4HD: Genetic Modifiers of CAG-repeat Expansion
Recent episodes of the podcast, “Help 4 HD Live,” have placed the spotlight on genetic modifiers of CAG repeat expansion in Huntington’s disease. On July 8th, host Lauren Holder was joined by Dr. Daniel O’Reilly, a gene-positive HD researcher from the Khvorova Lab of the RNA Therapeutics Institute at University of Massachusetts Medical School. Dr. O’Reilly, who authored last week’s HD Buzz article on CRISPR, shared his HD-story and entry into HD research, as well as the therapeutic potential of MSH3, a gene that repairs errors in DNA and a promising target to alter CAG repeat expansion and clinical progression of HD.
This past week, listeners learned more about exciting efforts to stop HD in its tracks with Dr. Michael Flower, Neurology Registrar at the National Hospital for Neurology and Neurosurgery in London and Postdoctoral fellow in the lab of Dr. Sarah Tabrizi at University College London. Dr. Flower gave listeners the breakdown of how mismatch repair genes can affect CAG repeat expansion, and the specifics on another genetic modifier of HD, FAN 1. A protein that makes cuts in DNA upon detection of error, FAN1 might be harnessed to slow the progression of HD by cutting out CAG repeats in the huntingtin gene. If scientists can develop new drugs to manipulate the activity of genetic modifiers of HD like FAN1, they may be able to use them to slow or halt the disease in its tracks.
Amplifying Community Voices in HD Care: WeHaveAFace TV Interviews Louise Vetter
Clinicians, family members, and HD-affected individuals are joining together in an effort to change the diagnostic criteria for Huntington’s disease. Current standards of diagnosis and care focus on the motor symptoms of HD, sometimes excluding cognitive, psychiatric, and behavioral symptoms of HD. James Valvano from We Have A Face recently sat down with President & CEO of HDSA, Louise Vetter, to discuss the community’s need for broader diagnostic criteria for symptoms that require comprehensive care from a broad range of medical professionals.
Furthering the discussion of collaboration between patients and clinicians in the healthcare process, James and Louise discussed HDSA’s new tailored online forum, launched in partnership with PatientsLikeMe, a virtual health community for those living with HD or caring for individuals with HD. The goal of the platform is to build an anonymously reported database of patient experiences in HD in a community that is secure from internet trolls and spreaders of fake news. To join the community and help build a body of experiential evidence to inform HD-care, click here.