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. 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. Gonzalez-Alegre's long-range research goal is to advance the application of precision medicine in the neurology clinic. His research focus revolves around genetic disorders that affect the brain, spanning from the diagnosis of novel genetic disease in the clinic to the identification of novel molecular targets using disease models and the design of early-phase human clinical trials.
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. Wang's research focuses on the development of bioinformatics methods to improve the understanding of the genetic basis of human diseases, and the integration of electronic health records and genomic information to facilitate genomic medicine on scale.
Dr. Deardorff’s work integrates patient information with genomics and cell biology to diagnosis and understand rare genetic disease. His research focuses on disorders caused by dysregulation of chromatin or altered translational regulation, specifically, Cornelia de Lange, Coffin-Siris, Skraban-Deardorff and KBG syndromes.
Dr. Pamela Weiss is an experienced academic pediatric rheumatologist with advanced training in clinical epidemiology and a focus on early diagnosis, accurate phenotyping, and targeted treatment of children with juvenile arthritis. Her research consists of a mixture of prospective interventional, prospective observational and retrospective large database-driven work.
Dr. John studies the malaria parasite, Plasmodium falciparum, to understand its basic molecular and cellular biology and functions of its specific metabolic pathways — what the parasite needs to make and why it needs to make it — to identify new antimalarial drug targets and develop new diagnostics.
Dr. Bassing's research program focuses on the genetic, epigenetic, and biochemical mechanisms by which mammals develop their immune systems while suppressing autoimmunity and genomic aberrations that cause leukemia or lymphoma.
Dr. Bhoj's genetics research aims to discover new human disease genes, their mechanisms, and potential targeted therapies. In addition to ongoing gene discovery efforts, Dr. Bhoj focuses on three novel genes that lead to pediatric neurologic dysfunction: TBC1 domain-containing kinase, Histone 3.3 (H3F3A and H3F3B), and MAP4K4.