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.
Dr. Ortiz-Gonzalez is a physician-scientist specializing in pediatric neurogenetics. Her clinical work focuses on finding a unifying genetic diagnosis for children with rare neurodevelopmental disorders. Her research is informed by her patients and focuses on understanding how genetic changes, in particular those affecting mitochondrial function, cause disease so we can develop better treatments for these children in the future.
Dr. Broedur’s research interests focus on nanoparticle drug delivery and cancer predisposition. He is also interested in identifying novel cancer predisposition genes, and developing enhanced surveillance techniques to identify cancer early in predisposed individuals with the hope of improving outcome and reducing side effects.
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. Ahrens-Nicklas works to understand why patients with inherited biochemical disorders often suffer severe, untreatable neurologic and cardiac symptoms. She strives to elucidate the link between biochemistry and network excitability, in order to drive new approaches to therapy.
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.
The cure rate for children with neuroblastoma is unacceptable, making it imperative that new therapies are developed. Dr. Bosse's laboratory is focused on discovering and developing new neuroblastoma cell surface immunotherapeutic targets. Along with his colleagues, Dr. Bosse's aim is to capitalize on the robust differential expression of these molecules with immune-based therapies and also define their mechanisms of overexpression and roles in tumorigenesis.
Dr. Stanley’s lab has identified many of the genes and syndromes associated with congenital hyperinsulinism including ABCC8, GCK, GLUD1, and Turner and Beckwith syndromes. Working with clinical and rodent model studies, his lab team has identified distinctive phenotypes of these disorders, including diazoxide unresponsiveness, leucine sensitivity, and protein sensitivity. Dr. Stanley continues to seek new diagnostic and treatment paradigms for infants with acquired and genetic disorders of hyperinsulinism.
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. 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.