In 2010, a grieving mother whose two young children had died from a rare neurological disorder was determined to see that no other family would suffer as hers had. She turned to NIH, sure that its scientists could decipher the genetic causes of Brown-Vialetto–Van Laere syndrome (BVVL), a disorder characterized by deafness, paralysis, and respiratory failure. Neurogeneticist Andrew Singleton at the National Institute on Aging (NIA) accepted the challenge. After all, he and his colleagues had discovered the genetic mutations responsible for a similar, albeit more common, neurodegenerative disorder—Parkinson disease.
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