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"One Mom's Mission To Find A Cure For Her Son's Rare Disease"

  • CBS News
  • New York, NY
  • (February 28, 2018)

Sandra Sermone is a mother on a mission. She is determined to know everything about her ten-year-old son's rare disease. Her son, Tony, was born with ADNP syndrome, an autism-related genetic disorder so rare that four years ago, only ten other cases in the world had been diagnosed. When she looked for more information, she learned there was only one study about the disorder. She created her own database, website and patient registry, which has now identified more than 150 other children with the same condition. After connecting with Sermone, researchers at the Icahn School of Medicine at Mount Sinai are launching a new study on the condition that affects her son. "We're trying to figure out the biology of this disorder and other similar disorders, so that we can come up with new drugs that are targeted to the disorder," said Joseph D. Buxbaum, PhD, professor of psychiatry, genetics and genomic sciences, and neuroscience at the Icahn School of Medicine at Mount Sinai and director of the Seaver Autism Center for research and treatment. There is currently no cure for ADNP syndrome, but the FDA has given special designation to a new drug which could be the first possible treatment for patients with the rare disease.

  • Joseph D. Buxbaum, PhD, Professor, Psychiatry, Genetics and Genomic Sciences, Neuroscience, Icahn School of Medicine at Mount Sinai, Director, The Seaver Autism Center for Research and Treatment

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