MAR 29, 2016 8:00 AM PDT

WEBINAR: Applications of Targeted Gene Panels in Inherited Disease Research

Speakers
  • Chairman, Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC)
    Biography
      Dr. Brian Meyer is currently Chairman of the Department of Genetics in the Research Centre of King Faisal Specialist Hospital and Research Centre (KFSHRC). He is an Australian citizen and undertook his undergraduate and postgraduate studies at the University of Western Australia. He has worked at KFSHRC for over 20 years studying primarily the genetic basis of recessive Mendelian diseases and has authored more than 100 related articles in peer-reviewed journals. Results from many of these studies undertaken by scientists in the Department of Genetics have led to the development of molecular genetic testing specific to Arab populations.

      Dr. Meyer is one of the founding scientists of Saudi Diagnostic Laboratories and has introduced to the region cutting edge technologies in molecular diagnostics, carrier screening and preventative procedures such as pre-implantation genetic diagnosis, premarital screening and prenatal testing. Dr. Meyer's current interests also include study of the genetic basis of more common polygenic traits such as type 2 diabetes, cardiovascular disease and autism. Dr. Meyer is a founding scientist of the Saudi Human Genome Program that is targeting the sequencing of over 100,000 samples over a period of 5 years. The objectives of this program include capacity building in genomics, characterization of rare diseases, profiling of cancers and development of pharmacogenetics to set the foundation for personalized medicine.
    • Director of Technology Development, Assistant Professor, Icahn School of Medicine at Mount Sinai
      Biography
        Dr. Robert P. Sebra is currently the Director of Technology Development and an Assistant Professor at the Icahn School of Medicine at Mount Sinai, in New York. He completed his undergraduate studies in Chemical Engineering at the Virginia Commonwealth University and received his PhD in Chemical and Biological Engineering from the University of Colorado at Boulder and started his career at Pacific Biosciences.
        Dr. Sebra has an interdisciplinary background spanning graduate school and industrial research experience includes strong expertise in the fields of photopolymerization chemistry and surface bioconjugation techniques, lab-on-a-chip platforms, active biomaterials, single-molecule detection assay development, and integration of DNA sequencing technologies for scientific and clinically driven applications. Since establishing a Technology Development team at ISMMS, Dr. Sebra has applied an integrated genomics approach for better infectious disease surveillance to understand genomic identity between community and hospital isolates by comprehensive characterization of microbial isolates as well as initiated research to derive better targeted approaches for human disease diagnostics that relate to cancer and inherited disease using both long and short read approaches. His work has led to over 35 publications and issued patents and is currently working toward the integration of bulk and single-cell methods to create niche clinical diagnostic pipelines.

      Abstract
      Recent advances in next-generation sequencing (NGS) have helped to accelerate the pace of discovery in the field of genetic disease research and testing. The ability to analyze multiple genes in a rapid, cost-effective fashion holds a lot of promise for both academic and clinical research labs interested in characterizing human genetic diseases. 

      Human genetic diseases are complicated since they can exhibit a lot of genetic and phenotypic variability. Researchers today can choose from numerous options to study diseases based on the levels of phenotypic heterogeneity observed; options include single-gene assays, gene panels, and whole exome or whole genome sequencing. The decreasing costs of whole exome and whole genome sequencing have prompted most clinical research labs to offer these services for unraveling relevant variants. However the high costs of data analysis and storage, and recent studies demonstrating the final variant yield of these broad approaches have prompted a shift towards more targeted panels for studying genetic disease in a clinical research setting.

      In this webinar, our expert speakers will
      • Discuss important considerations for designing targeted panels to study variants relevant to pediatric and adult-onset genetic diseases. 
      • Showcase specific examples to demonstrate the application of these panels in a clinical research lab
      • Answer your questions live during the broadcast
      Dr. Brian Meyer will discuss the development and application of a set of 13 inherited disease research panels for studying the Arab populations and Dr. Robert Sebra will discuss the application of a custom NGS panel for studying subjects enrolled in the Resilience Project.

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