Dr. Hakonarson is director of the Center for Applied Genomics and professor of Pediatrics at the Perelman School of Medicine, University of Pennsylvania. He leads a $40 million commitment from Children’s Hospital of Philadelphia to genomically characterize approximately 100,000 children, an initiative that has gained nationwide attention in the Wall Street Journal, New York Times, Time Magazine, Nature, and Science.
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.
Dr. Nissim is a biochemist and a pioneer in the application of stable isotopes, mass spectrometry, and nuclear magnetic resonance to study metabolome and fluxome and their coupling to genome in normal and disease states. His long-standing interest focuses on understanding the cause, mechanisms, and outcome of metabolic disorders.
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. Weitzman's research program aims to understand host responses to virus infection, and the cellular environment encountered and manipulated by viruses. He studies multiple viruses in an integrated experimental approach that combines biochemistry, molecular biology, genetics, and cell biology.
Dr. Tong investigates cytokine receptor signaling in normal and neoplastic hematopoietic development. She uses integrated approaches encompassing biochemistry, molecular biology, mouse models, and primary human samples to understand signaling events emanating from cytokine receptors that regulate the development of hematopoietic stem/progenitor cells.
Dr. Alexander-Bloch investigates normal brain development and the altered developmental trajectories that lead to mental illness. His multi-disciplinary research integrates brain imaging, genomics and clinical information.
Dr. Zhou’s outstanding research interests include mitosis-coupled DNA methylation drift and inference of cell-type-specific epigenetic signals. He developed multiple computational tools for analyzing DNA methylation data and has actively contributed to cancer genomics data analysis.
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.
Dr. Felix uses molecular, biochemical, cellular and in vivo methods to investigate the pathobiology of leukemias with KMT2A (MLL) translocations. Leukemias with these translocations affect infants and young children or occur as a complication of type II topoisomerase (TOP2) poison chemotherapies used for anti-cancer treatment. She aims to develop better treatment and prevention approaches for these leukemias, which have a poor prognosis.