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.


    Show Resources
    You May Also Like
    SEP 10, 2020 9:00 AM PDT
    C.E. CREDITS
    SEP 10, 2020 9:00 AM PDT
    Date: September 10, 2020 Time: 9:00am (PDT), 12:00pm (EDT) Osmolality testing is relevant throughout the entire bioprocessing workflow. As customers look to refine mAb and gene therapy workf...
    NOV 10, 2020 7:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    NOV 10, 2020 7:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    DATE: November 10, 2020 TIME: 7:00am PDT, 10:00am EDT Automation can provide tremendous benefits such as increased pipetting precision and accuracy, productivity, and throughput. Numerous wo...
    MAY 08, 2020 10:00 AM PDT
    C.E. CREDITS
    MAY 08, 2020 10:00 AM PDT
    DATE: May 8, 2020 TIME: 10:00am PT, 11:00am MT, 1:00pm ET The application of next generation sequencing to interrogate immune repertoires and methods in which these highly complex dataset...
    NOV 18, 2020 8:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    NOV 18, 2020 8:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    DATE: November 18, 2020 TIME: 08:00am PDT We develop and implement technologies to solve some of the major bottlenecks in biomedical research. In particular, we establish new imaging approac...
    C.E. CREDITS
    This drug development program is designed to create a family of broad-spectrum, pan-coronaviral drugs that respectively inhibit multiple key enzymes required for viral replication. By target...
    NOV 16, 2020 8:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    NOV 16, 2020 8:00 AM PST
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    Date: November 16, 2020 Time: 8:00am (PST), 11:00am (EST) CRISPR screening has become the prime discovery tool in modern biomedical research and drug discovery. At the same time, most screen...
    Loading Comments...
    Show Resources