Assistant Professor of Pediatrics (Genetics) and of Pediatrics (Stem Cell Transplantation), Stanford UniversityBiography
Dr. Gomez-Ospina is currently an Assistant Professor in the Department of Pediatrics. For her clinical practice she sees patients with suspected genetic disorders and is also in charge of the enzyme replacement service for lysosomal storage disorders at Lucile Packard Children's hospital. Despite, her young career, she has been the lead author in research studies in the New England Journal of Medicine, Cell, Nature Communications, and American Journal of Medical Genetics. Dr. Gomez-Ospina has championed the idea of commandeering the hematopoietic system to express proteins needed in other organs, including the brain. She established an adaptable platform for the treatment of lysosomal enzyme deficiencies and performed a first-of-its-kind preclinical study to support the clinical development of autologous transplantation of genome edited cells to treat patients with Mucopolysaccharidosis type I (Hurler syndrome). Beyond delivering lysosomal enzymes, this platform has potential implications for delivering many kinds of therapeutic proteins to the brain. In addition to therapy development, Dr. Gomez-Ospina led the discovery and characterization of a new infantile cholestatis syndrome caused by mutations in the bile acid receptor and, as part of large multi-institutional collaborations, participated in the discovery of multiple intellectual disability syndromes.