MAY 09, 2019 1:30 PM PDT

The NIH Rare Disease Undiagnosed Diseases Network; Lessons Learnt and Challenges Faced in the First Four Years

C.E. Credits: CEU P.A.C.E. CE Florida CE
Speaker
  • Faculty Investigator, HudsonAlpha Institute for Biotechnology
    Biography
      Liz Worthey, PhD, is a faculty investigator and the director for software development and informatics at the HudsonAlpha Institute for Biotechnology. She is interested in developing new tools for interpreting genomic data. Worthey leads her team in supporting the informatics goals of the institute as well as the clinical mission to provide definitive diagnoses for patients. Worthey received her PhD in genetics from Imperial College London in 2003 and completed her postdoctoral fellowship at the Seattle Biomedical Research Institute at the University of Washington, working on both eukaryotic genomics and other high throughput "omics" projects. In 2008, after working as a project manager for Merck & Co., Worthey joined the Medical College of Wisconsin (MCW) as senior research scientist and became an assistant professor of pediatric genomics in 2010. Worthey became director of genomic informatics for the Human and Molecular Genetics Center at MCW in 2012. She also holds an adjunct assistant professorship in the computer science department at the University of Wisconsin - Milwaukee and adjunct assistant professor positions within the department of pediatrics and department of genetics at the University of Alabama at Birmingham.

      Her lab develops and applies genomic and informatics methods in order to identify and study molecular variation in human disease. A particular focus is on diagnosis in patients with rare or undiagnosed disease. They develop a variety of tools and methods to study the impact of variation and are interested in identifying and studying not only causal variation, but also genetic modifiers of disease initiation, progression, and/or disease outcome.

    Abstract

    In 2014, the Undiagnosed Diseases Network (UDN), which is funded by the NIH, was established as a network of seven clinical sites, two sequencing cores, and a coordinating center. Later, a central biorepository, a metabolomics core, and a model organisms screening center were added. The aim of the UDN was to provide wider access to cross-disciplinary expertise and to leverage specific advantages of the collaborative network, such as deep subspecialty expertise. The sequencing cores were divided by methodology; the sequencing core at MCW, which subsequently moved to HudsonAlpha made use of WGS, whilst the other core at Baylor College of Medicine (BCM) made use of ES. 

    The hypothesis set out by the WGS site was that application of WGS would lead to an increase in molecular diagnoses of 25%. This talk will explore whether this hypothesis was proven out and will discuss the challenges faced and lessons learned during the first four years of the UDN.

    Learning Objectives: 

    1. To define the meaning of genomic medicine.
    2. To review benefits, challenges, and potential limitations of genomic medicine.
    3. To describe the challenges faced when interpreting genomic data.
    4. To understand how clinical WGS has a number of applied case example within the rare disease space.
     


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