ACMG 2025

Cora Vacher is the Market Segment Associate Director for Human Genetic at Oxford Nanopore Technologies. Cora is passionate about genomics, in particular how genomics can help decipher and alleviate the burden of neurological diseases from neurodevelopmental to late onset neurodegenerative disorders. She came to the UK for a postdoctoral position on the genetic of Huntington’s disease in Cambridge and subsequently moved to commercial organisations.

Wendy Chung, M.D., Ph.D., is a clinical and molecular geneticist and the Chief of the Department of Pediatrics at Boston Children’s Hospital and the Mary Ellen Avery Professor of Pediatrics at Harvard Medical School. Dr. Chung directs NIH funded research programs in human genetics of pulmonary hypertension, breast cancer, obesity, diabetes, autism, birth defects including congenital diaphragmatic hernia and congenital heart disease. She has led studies to improve newborn screening for spinal muscular atrophy, Duchenne muscular dystrophy, and now GUARDIAN (Genomic Uniform screening Against Rare Diseases In All Newborns). She is a national leader in the ethical, legal, and social implications of genomics. She was the recipient of the Rare Impact Award from the National Organization of Rare Disorders, and is a member of the National Academy of Medicine and the American Academy of Physicians. Dr. Chung received her B.A. in biochemistry from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics.

Cate Paschal received her PhD from Weill Cornell Medical College. She is board certified in Clinical Cytogenetics and Genomics and Clinical Molecular Genetics and Genomics. Cate is the director of the integrated cytogenetics and molecular genetics laboratory at Seattle Children’s Hospital. She is a clinical associate professor in the department of Lab Medicine and Pathology and program director of the laboratory genetics and genomics fellowship at the University of Washington.

Sissel joined Oxford Nanopore 10 years ago and leads the multidisciplinary Applications teams globally. These teams aim to demonstrate and extend the utility of Oxford Nanopore’s devices by applying the technology's unique strengths to a broad range of high-impact biological and clinical contexts. In addition to developing and showcasing novel applications and benchmarking the technology, Sissel’s teams work directly with customers to support them and ensure their success.

Dr. Shilpa Kobren is a researcher at the Data Management and Coordinating Center (DMCC) for the Undiagnosed Diseases Network (UDN) and the Associate Director of Rare Disease Analysis in the Department of Biomedical Informatics at Harvard University. She develops methods for identifying and determining the statistical significance of potentially etiological non-coding variants and genes recurrently harboring de novo variants or inherited variant pairs across patient cohorts. Dr. Kobren chairs the Tool Building Coalition bioinformatics working group across UDN sites, teaches genome sequencing analyses, and works to improve computational workflows for integrating clinical patient data with sequencing information to uncover disease-causing variants. Dr. Kobren is especially interested in understanding how underappreciated noncoding and other complex variants contribute to disease onset and progression.