MAR 15, 2018 01:30 PM PDT

Rare Inherited Mutations in Autism Spectrum Disorder

Presented At Neuroscience 2018
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  • Assistant Professor, University of Texas Southwestern Medical Center
      Maria Chahrour, Ph.D. is an Assistant Professor of Neuroscience and Psychiatry at the Eugene McDermott Center for Human Growth and Development at the University of Texas Southwestern Medical Center. She obtained her undergraduate degree in Biology from the American University of Beirut prior to attending the University of North Texas for a graduate degree in Forensic Genetics and Baylor College of Medicine for a Ph.D. in Molecular and Human Genetics. She later joined Harvard Medical school and Boston Children's Hospital as a postdoctoral fellow and worked there as an instructor in the Division of Genetics and Genomics. Her most recent work focuses on identifying novel genes in autism spectrum disorder and deciphering the molecular mechanisms underlying the disease, with a specific interest in leveraging shared ancestry and genomics to identify recessively inherited mutations and modeling these mutations in mouse.


    Autism spectrum disorder (ASD) is a complex group of individually rare neurological conditions with genetic and non-genetic causes. Despite the strong genetic component of ASD, it has been very difficult to identify the underlying disease genes. The major obstacles to gene discovery in ASD are the extreme diversity in the clinical symptoms of patients as well as the complex genetic makeup of the disorder. Next-generation sequencing technologies have allowed for recent strides in the genetics of ASD, while the molecular mechanisms underlying disease pathogenesis have remained elusive hindering therapy development. The field has been heavily focused on the role of spontaneous genetic changes that are not inherited from parents. However, these spontaneous mutations account for only ~30% of ASD cases, and cannot explain why ASD is highly heritable in humans. My talk will provide an overview of current areas of emphasis in ASD research spanning genomics and genetics, focusing on how we can leverage shared ancestry to identify recessively inherited ASD mutations. I will also discuss one specific example of a neurodevelopmental disease gene with recessive mutations, UBE3B, that functions in protein turnover and the molecular mechanisms underlying disease in this example.

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