MAY 13, 2015 5:00 AM PDT

Next Generation Sequencing Panels in Clinical Diagnostics: Autism Spectrum Disorders and Eye Related Disorders

Speaker
  • John Alexander, Assistant Professor of Human Genetics, Director, Molecular Laboratory, Emory University School of Medicine, Christin Collins, Assistant Professor, Department of Human Genetics
    Biography
      Dr. Alexander is an Assistant Professor in the Department of Human Genetics and a co-director of clinical molecular diagnostics at Emory Genetics Laboratory. His clinical interests include molecular diagnostics for retinal disorders in addition to general molecular diagnostics. Dr. Alexander's research interests include evaluation of recombinant adeno-associated virus based gene therapies for retinal disorders. He received his Ph.D. in genetics from the University of Florida College of Medicine and did post-doctoral fellowships at the University of Florida and the University of Alabama at Birmingham. Dr. Alexander completed his clinical molecular genetics training at the University of Alabama at Birmingham under the direction of Dr. Bruce Korf and Dr. Ludwine Messiaen. Dr. Alexander is board certified in clinical molecular genetics and is a Fellow of the American College of Medical Genetics.

      Dr. Collins is an Assistant Professor in the Department of Human Genetics and a co-director of the molecular laboratory at Emory Genetics Laboratory. Her research interests are in investigating the genetic causes of complex diseases, specifically autism spectrum disorders (ASD). The primary focus of her clinical work is the implementation of molecular techniques to improve clinical testing for genetic disease. She received her Ph.D. from the University of Florida and did her post-doctoral fellowship in the laboratory of Dr. Louis Kunkel at the Children's Hospital Boston. Dr. Collins completed her clinical molecular genetics training at Harvard Medical School and is board certified in Clinical Molecular Genetics.

    Abstract

    The implementation of Next Generation Sequencing (NGS) technology in the clinical laboratory has allowed for large-scale panel testing of many genes simultaneously at a reduced cost and turn-around time. Our laboratory has utilized NGS technology to develop large gene panels designed to target genes associated with specific clinical phenotypes, including autism spectrum disorders and eye-related disorders. Our results indicate that targeted panel based testing and a tiered approach is likely to result in a greater diagnostic yield for autism spectrum disorders and eye related disorders.


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