MAR 20, 2014 1:00 PM PDT

The role of high throughput sequencing in the research and diagnosis of neurodegenerative disorders

Presented at: Neuroscience
Speaker
  • Director of Next-Gen Sequencing Laboratory Laboratory of Personalized Genomic Medicine, Associate Professor, Columbia University
    Biography
      Peter L. Nagy is a biochemist and a physician, board certified in anatomic and molecular genetic pathology.
      <br />
      <br />Dr. Nagy's research focuses on the role of transcriptional processing in the pathogenesis of neurodegenerative disorders. He developed S. pombe and M. musculus models for Ataxia-Oculomotor-Apraxia type 2 (AOA2) caused by mutations in the human ortholog of the yeast RNA helicase Sen1, Senataxin (SETX). Using these models they are working to define the pathomechanism of SETX mediated neurodegenerative disorders. They are also investigating the pathogenesis of ALS caused by C9orf72 expansions and search for novel ALS causing or modifying genetic variants.&nbsp;
      In Dr. Nagy's research, he combines the tools of classical biochemistry and genetics with genomics, most importantly next-gen sequencing for mutation discovery, transcriptome analysis and the identification of novel protein RNA interactions.
      <br />
      <br />His clinical interest is the development and use of genome-scale sequencing assays in the clinical diagnosis of constitutional disorders and cancer such as :
      <br />&nbsp;&nbsp;&nbsp; * Mitochondrial Genome Sequencing Test
      <br />&nbsp;&nbsp;&nbsp; * Columbia Combined Genetic Panel (1300 genes most commonly associated with genetic disorders)
      <br />&nbsp;&nbsp;&nbsp; * Whole Exome Sequencing Tests for Constitutional Disorders and Cancer.
      <br />
      <br />

    Abstract

    Using high throughput next-generation sequencing to simultaneously search large number of genes for pathogenic mutations has numerous advantages. It decreases the pressure to narrow the differential diagnosis for diseases with overlapping phenotypes, can identify entirely new causative private mutations when no good candidate genes are available, and shorten the patients diagnostic odyssey. The Laboratory of Personalized Genomic Medicine at Columbia University started offering mitochondrial genome, partial and whole exome sequencing for clinical diagnostic purposes in January 2013. In my talk I will highlight the effectiveness of next-gen sequencing in diagnosing neurological and neurodegenerative conditions. Furthermore I will discuss the use of next-gen sequencing technologies to evaluate transcriptional and translational changes that might define these conditions in cell culture and animal model systems. Finally, I will propose some practical steps that would improve the effectiveness of next-gen sequencing diagnosis of neurodegenerative disorders and present my view of the near future based on the technologies that are available or will soon become available.


    Show Resources
    You May Also Like
    APR 07, 2020 8:00 AM PDT
    C.E. CREDITS
    APR 07, 2020 8:00 AM PDT
    DATE: April 7, 2020 TIME: 8:00am PT, 11:00am ET This webinar sets out to establish why quality control is key to robust, reliable, reproducible science. We will look at best practice criteri...
    JAN 23, 2020 9:00 AM PST
    C.E. CREDITS
    JAN 23, 2020 9:00 AM PST
    DATE: January 23, 2020 TIME: 9:00am PST, 12:00pm EST...
    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...
    FEB 26, 2020 9:00 AM PST
    C.E. CREDITS
    FEB 26, 2020 9:00 AM PST
    DATE: February 26, 2020 TIME: 9:00am PST 3D cell culture and analysis and the study of organoids and spheroids are becoming more prevalent as a research method in publications as traditional...
    JUN 17, 2020 1:30 PM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    JUN 17, 2020 1:30 PM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    Understanding the complex interplay between a pathogen and the host response is important to developing effective vaccines and therapeutics. The nCounter® Analysis System and GeoMx®...
    JUN 23, 2020 10:00 AM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    C.E. CREDITS
    JUN 23, 2020 10:00 AM PDT
    Add to Calendar Select one of the following: iCal Google Calendar Outlook Calendar Yahoo Calendar
    DATE: June 23, 2020 TIME: 10:00am PT Human mesenchymal stromal or stem cells (MSCs)-based immunomodulation treatment has been proposed as a suitable therapeutic approach for many diseases, s...
    Loading Comments...
    Show Resources