Rare Disorder Spotlights Need for Neuroscience Research
Sonia Vallabh and her husband Eric Minikel are on a quest for a cure. Vallabh carries the gene for fatal familial insomnia, a rare prion disease that she will almost certainly develop around age 49. She and Minikel have changed careers, redirecting their lives to find a cure for the disorder.
“People have described our situation as unfathomably unlucky,” Minikel said. “But we like to think of ourselves as exceptionally lucky in terms of the amount of research and understanding that exists.”
The couple referenced scientific advances that hold promise for treatment of fatal familial insomnia and other prion disorders, in remarks before an audience of nearly thirty congressional staff on Capitol Hill. The February 25 briefing on understanding neurodegenerative diseases was presented by the Congressional Neuroscience Caucus.
Virginia Lee, professor of pathology and lab medicine at the University of Pennsylvania, and Steven Dekosky, former vice president and dean of the University of Virginia School of Medicine, spoke about advances in research related to more common neurodegenerative disorders such as Alzheimer’s and Parkinson’s disease.
“Research on [neurodegenerative diseases] is essential,” said Lee, former SfN council member and leading researcher in neurodegenerative disorders. “If we learn the basic mechanism behind one neurodegenerative disease we can apply it to the research and understanding of another.”
“These disorders are more family disorders than they are individual,” Dekosky added, emphasizing that diagnoses can often change the lives of entire families. Vallabh and Minikel have been speaking out to raise awareness of fatal familial insomnia, which results in the inability to sleep, and ultimately leads to early death. While few cases exist, research into the mechanism behind this disease may hold promise in developing treatments for similar, more widespread illnesses, including Parkinson’s and Alzheimer’s.
“Neurodegenerative diseases have become so common that it is difficult to find anyone who is not affected,” said caucus co-chair Rep. Earl Blumenauer (D-OR).
Blumenauer and Robin Elliot of the American Brain Coalition underscored the importance of federal research funding to help advance scientific discovery. Blumenauer noted that treatments and preventative measures for neurodegenerative disorders will improve the quality of life for millions of patients, minimize the suffering of their families, and reduce the future financial impact for healthcare systems worldwide.
The event was hosted by Congressional Neuroscience Caucus co-chairs Rep. Cathy McMorris Rodgers (R-WA) and Blumenauer, and was cosponsored by the Society for Neuroscience, the American Brain Coalition, the American Academy of Neurology, and the Alzheimer’s Association.
The Society for Neuroscience is a nonprofit membership organization of nearly 40,000 basic scientists and clinicians who study the brain and nervous system.
The Congressional Neuroscience Caucus is a bipartisan caucus that promotes awareness of neuroscience research and findings and develops legislation to advance neuroscience research. Caucus co-chairs are Rep. Earl Blumenauer (D-OR) and Rep. Cathy McMorris Rodgers (R-WA).