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Developing Individualized Therapies for Rare Diseases

Thursday, August 8, 2024
1 hour
C.E.U.: 1 Category 1 Contact Hour
P.A.C.E.: 1 Unit

In this lecture, we will review standard NGS methodology and distribution of variant allele fraction, including possible interpretations. We will explore the clinical interpretation for these findings in the context of specific clinical presentations and the recommendations for counseling, risk interpretation, and follow-up testing or management.

Level of Instruction: Intermediate

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Meghan Towne
Genomic Science Liaison
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 Towne, MS, LGC, CGC is a rare disease Genomic Science Liaison at Ambry Genetics, serving as a clinical resource for the North Atlantic and Great Lakes regions. She earned her graduate degree in Genetic Counseling from Boston University School of Medicine. Her studies piqued her interest in the impact of innovative genomic technologies on diagnosing and connecting families with rare genetic disorders. Meghan worked at Boston Children’s Hospital developing the institutional infrastructure for gene discovery and evaluating the utility of genomic sequencing. In 2016, she joined Ambry Genetics, where she has held several positions, including Exome Reporting Genetic Counselor and Clinical Research Investigator before joining the Genomic Science Liaison team.