INVESTIGATOR SPOTLIGHT: Nara Sobreira, MD, PhD

Dr. Sobreira is an Assistant Professor at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins School of Medicine with primary interest in rare Mendelian phenotypes and analysis of next-generation sequencing. Her main clinical and research focus is on identifying the molecular basis of phenotypes associated with cartilage tumors and vascular anomalies (mainly Ollier disease and Maffucci syndrome) and understanding the physiopathology of these phenotypes to investigate ways 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 that facilitate novel disease gene discovery.