A newly identified disorder, MINA syndrome, results from a mutation in the NAMPT protein that deprives motor neurons of ...
A Northwestern Medicine-led study has identified mutations in the gene CEP76 as a new cause of ciliopathies, shedding light on a complex group of disorders that affect multiple body systems, according ...
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‘How I Met Your Mother,’ a rare genetic disorder, and ‘the cliff’ (Enable: The Disability Podcast)
“How I Met Your Mother” co-creator Craig Thomas talks with “Enable: The Disability Podcast” about his son, who was born with ...
An international research team, led by Shinghua Ding at the University of Missouri, has identified a previously unknown ...
We have written about the promise of gene therapy to correct genetic disease many times. An exciting development happened ...
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Are eating disorders genetic? Here's the data
Despite widespread misconceptions, eating disorders aren’t a choice, they’re serious, potentially life-threatening conditions. While social and environmental factors do influence someone’s risk of ...
A University of Missouri-led discovery could pave the way for improved diagnosis and treatment of unexplained movement ...
With more than 250 peer-reviewed papers published in several high-impact journals, Katalin Susztak, MD, PhD, has opened the ...
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FDA approves UCB’s Kygevvi for genetic mitochondrial disease
The approval was based on data from a Phase II trial, two retrospective chart review studies and an expanded access programme ...
A biotech stock with strong FDA approval odds this November may see limited upside amid a full valuation and a pending lawsuit.
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