Using Structural Biology to Support Variant Assessment | Webinar | Ambry Genetics

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Leveraging Structural Biology to support variant assessment efforts is increasingly becoming a valuable tool. While in-silico predictors and other methods nominally leverage elements of structural biology as features, their capacity to give insight into the mechanisms of disruption of function is limited. Structural evidence, however, in combination with alternative categories of evidence such as population, family studies, and functional studies, can be invaluable for re-assessing variants of unknown significance. Variant assessment using biophysical principles is generally applicable to most proteins and provides insight into the impact of variants. General biophysical methods will be presented along with examples of how these methods can be used to provide insight into the functional deleteriousness of a variant.
Presented by:
Adam Chamberlin, PhD | Presenter
Principle Structural Biologist, Ambry Genetics
Dr. Chamberlin received a BS in Chemistry from the Trinity University, and a PhD in Physical Chemistry from the University of Minnesota (Twin Cities). From there he accepted a position as a researcher in Computational Bioinorganic Chemistry at the Centre for Computational and Theoretical Excellence in Tromsø, Norway, where he investigated the spectral and chemical behavior of porphyrins and hemes. Subsequently he took a position at the University of Calgary, Canada as a researcher to investigate the structure and gating behavior of membrane-bound ion channels including the voltage-gated proton channel, the human ether-a-go-go related gene channel (hERGG), and the voltage-dependent anion channel of mitochondria. Since joining Ambry in 2015 he has been involved in both contributions to variant assessment using structural properties and to the development of computational solutions for use by Clinical Diagnostics. He has wide ranging experience in quantum and physical chemistry, structural biology, and mathematical modelling among many others.
Lindsay Lipe, MS, CGC | Moderator
Genomic Science Liaison, Ambry Genetics
Lindsay Lipe is an Oncology Genomic Science Liaison at Ambry Genetics for the Bluegrass Region. She completed her Bachelor of Science in Zoology at Michigan State University and her Master of Science in Genetic Counseling at Wayne State University. She worked as a clinical genetic counselor at the West Cancer Center in Memphis, TN prior to starting at Ambry. In her current role, she serves as a clinical liaison for the field team to educate health care providers and key opinion leaders on genetic testing and genomic medicine. Lindsay is a member of the National Society of Genetic Counselors (NSGC) and is licensed as a genetic counselor by the TN Department of Health. She is board-certified by the American Board of Genetic Counseling (ABGC).