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"Epigenetic Variations Could Underlie Neurodevelopmental Disorders, Congential Anomalies"

  • Genome Web
  • New York, NY
  • (May 25, 2018)

Epigenetic variations may contribute to the development of neurodevelopmental disorders and congenital anomalies, a new study has found, explaining cases where no genetic mutations could be found. An international team of researchers has now suggested that epigenetic changes could be involved. Researchers, led by Andrew Sharp, PhD, associate professor of genetics and genomic sciences at the Icahn School of Medicine at Mount Sinai, compared the DNA methylation profiles of nearly 500 individuals with neurodevelopmental disorders and congenital anomalies to those of about 1,500 controls. "Our study suggests that these epigenetic mutations are a significant contributor to human disease," said Dr. Sharp. "Investigating DNA methylation when profiling genomes for disease mutations could help us uncover causative defects in congenital and neurodevelopmental diseases that have eluded us for years."

- Andrew J. Sharp, PhD, Associate Professor, Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai

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