The Intricacies of Splicing and RNA Data in Germline Variant Classification with Heather Zimmermann, PhD and Tina Pesaran, MA, MS, CGC

The expanding availability of RNA functional data has had a major impact on variant assessment. This presentation will review RNA splicing and its impact on protein function and disease. Dr. Zimmermann will highlight the complexities underlying the interpretation of RNA data and review how RNA impacts germline variant classification.

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 Zimmermann, PhD | Presenter

Principal Variant Assessment Scientist

Dr. Heather (Stickney) Zimmermann received her undergraduate degree in Biology from Swarthmore College. She then spent several years as a research technician studying Hedgehog signaling at Wesleyan University before pursuing a Ph.D. in developmental biology at the Stanford University School of Medicine on a Howard Hughes Medical Institute Fellowship. Her Ph.D. thesis involved the development of a microarray assay for genetic mapping in the zebrafish model as well as the investigation of the role of BMP4 in basic embryonic patterning. 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. Her post-doctoral research focused on the development of asymmetry in the brain, with emphases on gene discovery and TGF-b signaling. In April of 2016, Dr. Zimmermann joined the Variant Assessment Team at Ambry Genetics, where she specializes in both 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.

Tina Pesaran, MA, MS, CGC | Presenter

Director, Variant Classification Program

Ms. Pesaran received her master’s in microbiology, immunology and molecular genetics from UCLA, studying the genetics of cardiovascular disease. She then received her master’s in genetic counseling from California State University, Northridge. Prior to joining Ambry Genetics in 2011, Mrs. Pesaran worked as a clinical cancer genetic counselor for 8 years. She is the Director of Ambry Genetics’ Genomic Services and Curation Program which encompasses Ambry’s Variant Assessment Team and Gene Team, a multi-disciplinary team of scientists focused on gene-disease validity, complex variant assessment and advancing variant assessment standards. Her current research interests include gene and disease specific classification nuances and the improvement of variant classification using scalable functional and computational methods. She has co-authored several peer-reviewed publications related to qualitative and quantitative approaches to variant classification and has contributed book chapters on the practice of variant classification. Ms. Pesaran is a member of the ClinGen Sequence Variant Interpretation Working Group, which provides support to variant curation expert panels developing gene-specific modifications to the ACMG/AMP guidelines. She is also a member of several ClinGen expert groups within the Hereditary Cancer domain as well as the ENIGMA and InSiGHT international variant interpretation committees. Ms. Pesaran is a strong supporter of data sharing and is a member of the Sequence Variant Inter-Laboratory Discrepancy Resolution Task Team.

Tara Namey, MS, LCGC | Moderator

Manager, Genomic Science Liaisons, Ambry Genetics

Tara joined Ambry Genetics in 2016 as an Oncology Genomic Science Liaison. Prior to joining Ambry, Tara was employed for 16 years at Lehigh Valley Health Network during which time she played an integral role in the development and growth of the Greg and Lorraine Harper Cancer Genetics Program. During her time there, Tara served as both Manager and Senior Genetic Counselor. She earned her Masters of Science degree in Genetic Counseling from California State University, Northridge and is board-certified by the American Board of Genetic Counseling.