A Guide to Understanding Genetic Technology Results

Nara Sobreira, MD, PhD, is an associate professor at the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine. Her area of expertise is rare Mendelian phenotypes, analysis of next-generation sequencing, and functional testing of candidate causative variants. She earned her M.D. at the University of Pernambuco in Brazil. She finished her Ph.D. in Human Genetics at Johns Hopkins followed by a one-year postdoc also at Johns Hopkins School of Medicine. She completed residencies in clinical genetics at both Universidade Federal de Sao Paulo and Johns Hopkins. Her main clinical and research focus is on identifying the genetic bases of rare phenotypes, mainly, phenotypes associated with cartilage tumors and vascular anomalies, and on understanding the physiopathology of these phenotypes to identify pharmacological strategies to treat them. She has worked extensively on developing strategies to better analyze the variants identified by next-generation sequencing and on novel strategies for data sharing. She is one of the creators of GeneMatcher, VariantMatcher, and one of the co-founders of the Matchmaker Exchange, all intended to share next-generation sequencing data.

Arvind Kothandaraman’s work has revolved around development and deployment of tools that are vital for the improvement of human healthcare. He serves as the General Manager of Multiomics and Specialty Diagnostics at Revvity (formerly PerkinElmer) and has previously held positions at Thermo Fisher Scientific, Advanced Analytical (now Agilent Technologies) and BioReference Laboratories (now OPKO Health). His experience spans business management, product development, commercial engagement, operations, research, and development across life sciences discovery and diagnostics.

Kothandaraman is passionate about bridging the gap between credible, actionable information and public awareness particularly in multifaceted areas like medical science. He considers every interaction to be a learning opportunity, greatly enjoys knowledge exchange and considers it to be an extremely effective method to invigorate the mind.

Kothandaraman holds a master’s degree in business and science from the Claremont Colleges, California. He is an active member of the American Society of Human Genetics (ASHG) Public Education and Awareness Committee (PEAC).

Dr. Joseph Shen is a geneticist with interests in neurodevelopmental disorders, clinical and molecular characterization of ultra-rare genetic conditions, and gene variant interpretation. He obtained his undergraduate degree from University of California, Berkeley, and his medical degree and doctorate in human molecular genetics from Case Western Reserve University in Cleveland, OH. His pediatrics residency and clinical genetics fellowship training was at Baylor College of Medicine in Houston, TX. Currently he is an Associate Professor in the Division of Genomic Medicine in the Department of Pediatrics at University of California, Davis.