Novel Strategies for Treatment of Genetic Disorders with Elizabeth Chao, MD, FACMG

This webinar will focus on an examination of the mechanisms of genetic disease including the importance of molecular diagnosis. New therapeutic interventions are developed and specifically directed at an individual’s genetic diagnosis. These might include augmenting protein production or function, decreasing toxic metabolites, or repairing or correcting errors at the genomic level. Rapid translation of these therapies in the setting or rare disease means that trials are already ongoing and new drug approvals are rapidly changing the way patient with rare genetic disease are managed.

Elizabeth Chao, MD, FACMG | Presenter

Elizabeth Chao, MD, FACMG is an Assistant Professor of Genetics and Genomics in the Departments of Pediatrics and Pathology at the University of California, Irvine. Following medical and specialty training in Clinical and Molecular Genetics at UC Irvine and the Children's Hospital of Philadelphia, she served as Associate Director of the Genetic Diagnostic Laboratory at the University of Pennsylvania. Dr. Chao also held the role of Medical Director at Ambry Genetics prior to returning to full time practice of clinical and laboratory genetics in 2016. Her research program focuses on the development and implementation of genomic testing to manage rare pediatric disease and hereditary cancer risk.

Kelly D. F. Hagman, MS, CGC | Moderator

Prior to receiving her masters in Genetic Counseling in 2004, Kelly Hagman spent several years in a research lab studying DNA mutagenesis. She started her career as a genetic counselor at the Molecular Diagnostic Laboratory at City of Hope, where she continued her involvement in research, most of which focused on Li-Fraumeni Syndrome (LFS). Driven by her interest in new molecular technologies, in 2009 Kelly joined Ambry Genetics to lead the genomic services group where she gained expertise in multiple sequencing platforms and DNA/RNA enrichment techniques. In 2011, she transitioned to the clinical team to lead Ambry's clinical genomics offerings, most notably, diagnostic exome sequencing. Kelly is currently the co-chair of the National Society of Genetic Counselors (NSGC) Genomic Technologies Special Interest Group (SIG). Kelly is also a firm believer that the best patient care is achieved through open data sharing. She has more than 35 peer-reviewed publications in molecular genetics (https://www.ncbi.nlm.nih.gov/myncbi/collections/mybibliography/) and has been an invited lecturer at several scientific meetings.