What Does One Do About Those Pesky VUSs? Ambry’s Translational Genomics Lab brings new understanding to Variants of Uncertain Significance (VUS)

  • This webinar will provide an overview of Ambry’s Translational Genomics Lab (ATG) services and how it can bring new understanding to VUSs and help you better manage your patients.  The ATG lab tests for various types of alterations that are often difficult to assess with the limited information available. We offer specialized studies providing the necessary data points to better define whether a VUS is benign or pathogenic. During this webinar Dr. Karam will describe an RNA protocol for the assessment of splicing variants and compare the protocol to other assays.  He will also illustrate how this protocol has been used to analyze splicing variants at Ambry to improve the diagnostic yield. We hope that with this information we can bring clarity to an uncertain result and, ultimately, find the answer so that you can better guide patient treatment.

    Who should attend:

    Genetic Counselors, Geneticists, others interested in bringing clarity to VUSs


    Please note: You must attend the full length of the live course and complete the evaluation in order to claim CEUs.

Associate Director of Ambry’s Translational Genomics (ATG) Lab

Rachid obtained his medical degree in Brazil, at the Federal University of Health Sciences of Porto Alegre, one of the most reputable medical schools in the country. Rachid has a PhD in Oncogenetics, and did his graduate studies on the role of the nonsense-mediated mRNA decay (NMD) pathway in the regulation of the CDH1 gene expression, at University of Porto, in Europe, and at MD Anderson Cancer Center, Houston, Texas. He did his postdoc at University of California, San Diego (UCSD) School of Medicine, where he focused on RNA biology research. Rachid joined Ambry Genetics in 2014, and currently he is the Associate Director of Ambry’s Translational Genomics (ATG) Lab.

Director, Genetic Specialists

Mrs. Smith graduated from University of North Carolina at Chapel Hill with a B.S. in Biology. As an undergraduate, she worked in a lab studying dental genetics. She then received a M.S. in Genetic Counseling from The University of Texas Health Science Center in Houston/ MD Anderson. Prior to joining Ambry, Mrs. Smith worked for the Baylor Health Care System developing the cancer and cardiovascular genetic counseling clinics. She is currently the Licensure Chair for the Texas Society of Genetic Counselors and the Vice-Chair of the National Society of Genetic Counselors’ Access and Service Delivery Committee. At Ambry, Mrs. Smith is the director of the field based genetic specialist team.

  • Wed, April 12, 2017
  • 1:00pm PDT
  • Duration: 1 hour
  • C.E.U. 1 unit
  • P.A.C.E. 1 unit

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