Dr. Spinner's research focuses on the etiology and expressivity of pediatric developmental disorders. She uses genomic methods to focus on the multisystem disorder Alagille syndrome and biliary atresia, a likely heterogeneous and poorly understood condition. She is also interested in using genomic tools to continue to improve diagnostic rates for constitutional genetic disorders.
As director of Clinical Laboratories, Strategic Partnerships and Innovation at the Center for Applied Genomics, Dr. Santani oversees the clinical genomics program for the diagnosis of common and rare genetic disorders.
Dr. Young’s translational research program aims to understand mechanisms underlying interstitial and rare lung diseases and develop new strategies to treat these disorders. Her laboratory focuses on the roles of epithelial cells in alveolar homeostasis, injury, and repair.
Dr. Rivella is an expert in the pathophysiology of erythroid and iron disorders and in the generation of lentiviral vectors for the cure of hemoglobinopathies. He also investigates additional disorders such as anemia of inflammation and hemochromatosis.
Using translational approaches that encompass genomic studies, biomarker development, disease modeling, natural history studies, and clinical trials, Dr. Vanderver seeks to improve the quality of life and lifespan of individuals living with leukodystrophies or heritable disorder of myelin. She leads the Leukodystrophy Center of Excellence at Children's Hospital of Philadelphia.
Dr. McCormack investigates the intersection of neuroendocrinology and metabolism. Her translational research program involves two areas. The first involves studying those with genetic disorders, including primary mitochondrial diseases and Friedreich's ataxia, with characterized risk for diabetes mellitus. Second, Dr. McCormack focuses on brain disorders associated with excess weight gain, including brain tumor-related hypothalamic obesity syndrome and idiopathic intracranial hypertension.
Dr. Falk is a Clinical Geneticist who serves as executive director of the Mitochondrial Medicine Frontier Program. Her translational research lab investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies, in C. elegans, zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction.
Dr. Oliver investigates the mechanisms governing T cell activation and protective immunity. Her goal is to define mechanisms that, when dysregulated, result in autoimmunity or allergic disorders like asthma.
Dr. Maris investigates the molecular and genetic mechanisms contributing to the development and progression of neuroblastoma, a common childhood cancer. He also aims to develop new molecular diagnostic tests and less toxic, targeted therapies to treat relapsed or refractory neuroblastoma, including a major effort in immunotherapy discovery and development.