Developing Individualized Therapies for Rare Diseases with Margaret Meserve, MS, CGC

• 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

  

  Only the live session qualifies for CEUs but when possible, we host the recordings on our website and NSGC recommends participants to use their personal email instead of work email addresses to ensure they receive their CEU certificates.

  

  Ambry Genetics is approved as a provider for continuing education program by NSGC and ASCLS P.A.C.E ® Program.

Margaret Meserve, MS, CGC | Presenter

Research Genetic Counselor at Boston Children’s Hospital

Margaret Meserve, MS, CGC is a research genetic counselor at Boston Children’s Hospital in the Yu Lab. She received her Master of Science in Genetic Counseling degree from Boston University and is certified by the American Board of Genetic Counseling. The Yu lab focuses on developing personalized genomic therapies for children with rare neurological and genetic diseases. Her main roles include variant curation, data management, and participant communication.

Meghan Towne, MS, CGC, LCGC | Moderator

Genomic Science Liaison

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.