Factors Influencing the Utility of RNA Studies with Heather Zimmermann, PhD

• In this seminar, we will review the role that RNA plays in human biology and the various ways in which genetic variants can have a negative impact on human health via RNA. We will then discuss the factors that influence the utility of RNA studies and consider when it is worth pursuing such studies. Finally, we will explore several case examples illustrating the concepts discussed.

  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.

Heather Zimmerman, PhD | Presenter

Principal Variant Assessment Scientist

Dr. Heather Zimmermann received her undergraduate degree in Biology from Swarthmore College before pursuing a Ph.D. in developmental biology at the Stanford University School of Medicine on a Howard Hughes Medical Institute Fellowship. Dr. Zimmermann began her postdoctoral training at University College London (London, UK) funded by a Royal Society Fellowship before returning to the U.S. to finish her training at the University of Washington. Prior to joining Ambry Genetics, her research foci included gene discovery, advances in genetic mapping, and the role of cell signalling pathways such as the Hedgehog, BMP and WNT pathways in embryonic development. In 2016, Dr. Zimmermann joined the Variant Assessment Team at Ambry Genetics, where she specializes in RNA analysis and the interpretation of cardiovascular disease gene variants. Dr. Zimmermann is also a member of several variant interpretation consortia, including ClinGen Familial Hypercholesterolemia VCEP and ClinGen Cardiomyopathy VCC.

Amanda Jacquart, MS, LCGC | Moderator

Genomic Science Liaison I

Amanda Jacquart joined Ambry Genetics in 2022 as the Oncology Genomic Science Liaison for the Midwest territory. In her current role, she provides ongoing clinical and technical genetic testing education to healthcare providers and peers in the field. She practiced as a genetic counselor in the Clinical Cancer Center at Froedtert & the Medical College of Wisconsin. During her time there, she worked diligently to expand genetic counseling services for patients with hematologic malignancies and served as the primary genetic counselor for the Greater Midwest Pancreatic Cancer Screening Clinic. With her appointment as Adjunct Faculty in the Graduate School at MCW, she maintains a close relationship with their genetic counseling training program by serving as a Primary Masters Thesis Advisor. Amanda earned her Masters of Science in Genetic Counseling from the University of Pittsburgh and is certified by the American Board of Genetic Counseling.