GeneMatcher Harnesses the Power of Genomic Data to Further Disease Gene Discovery and Improve Diagnostic Rates

Thursday, September 22, 2022

4:00am PDT

1 hour

C.E.U.: 1 Category 1 Contact Hour

P.A.C.E.: 1 Unit

In this session, we will review the Matchmaker Exchange platform with specific focus on the GeneMatcher node, an online forum which connects scientists and clinicians to share standardized data on candidate genes. Cohorts which form from these connections can lead to sufficient data to characterize new gene-disease relationships. Attendees will learn about the collaborations, accomplishments, and discoveries which have stemmed from GeneMatcher and the clinical impact that these findings have on individual patients and testing diagnostic rates as a whole. We will use case examples to illustrate this point as well as published literature from academic and clinical laboratories who participate in GeneMatcher.

Level of Instruction: Basic

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Meghan Towne

Senior Clinical Research Specialist

After obtaining her B.S. in biology with a minor in chemistry from Boston College in 2007, Meghan attended Boston University School of Medicine for her graduate studies in Genetic Counseling. Her studies piqued her interest in the impact of innovative technologies on diagnosing and connecting families with rare genetic disorders. Meghan worked for seven years […]

Meghan is the Senior Clinical Research Specialist at Ambry Genetics and manages research projects for Ambry’s exome, neurology, cardiology, and specialty products. In this role she oversees external research collaborations, pharma partnerships, and internal studies. Meghan began working at Ambry Genetics as an exome reporting Genetic Counselor in 2016. Prior to joining Ambry, Meghan worked as the Project Manager of The Manton Center for Orphan Disease Research at Boston Children’s Hospital where she studied the impact of innovative genetic technologies on diagnosing and connecting families with rare genetic disorders. In addition to her normal job tasks, Meghan sits on the Institutional Review Board at Massachusetts General Brigham and serves as a lecturer for the Boston University Genetic Counseling graduate program.

Susan Toomey

Genomic Science Liaison

Genomic Science Liaison, Ambry GeneticsSusan Toomey joined Ambry Genetics in 2017 as the General Genetic Specialist for the Mountain and. Susan received her Masters of Science Degree in Biophysics and Genetics from the University of Colorado; and holds a BA in Sociology and Evolutionary Science from the University of Cincinnati. She has held previous genetic counseling positions at the Colorado Genetics Laboratory, Colorado Center for Reproductive Medicine, and the Children’s Hospital Colorado in the Neurocutaneous and Neuromuscular Clinics.