Title: Improving Diagnostics Of Hereditary Cancer With RNA Sequencing
Friday, September 10, 2021

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ambry headshot Karam R    Speaker: Dr. Rachid Karam

Brief description
There are both technical and logistical limitations that hinder the identification of patients with or at-risk for hereditary cancer resulting in many patients going undiagnosed. More specifically, for patients who do undergo testing, limitations of DNA-based panels may result in a negative or inconclusive result for a patient who in fact has hereditary cancer. In this session, we will demonstrate how technical advancements, specifically RNA genetic testing, improves the diagnostic yield of hereditary cancer panel testing, by reviewing current data and highlighting specific case examples.

Biographies
Rachid Karam obtained his M.D. in 2003, in Brazil, and his Ph.D. in Oncogenetics in 2008, at the University of Porto, Portugal. He did his postdoctoral studies at the University of California, San Diego (UCSD) from 2009 to 2014. He joined Ambry Genetics in 2014, and is now Ambry's Director of Clinical and Translational Research. He also actively participates in several NIH/ClinGen committees dedicated to creating guidelines for the interpretation of genetic testing and is currently the Co-Chair of the CDH1 ClinGen expert panel.

 

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46th Annual Scientific Meeting - June 6-9, 2022 - Presented Virtually