Dr. George's basic and clinical research interests are in the development of novel therapeutics for hemophilia. Her basic science laboratory studies the molecular basis of coagulation, and she is the principal investigator of ongoing hemophilia A and B gene therapy trials.
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. 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. Monos is an internationally recognized expert on histocompatibility (HLA) molecules. His work covers a wide spectrum of HLA-related issues that pertain to both the molecular (structure/function) aspects of HLAs, as well as the genetics of the major histocompatibility complex, that includes the genes encoding the HLA molecules.
Dr. Flake is a general pediatric surgeon with a clinical and research focus on prenatal treatment ranging from the fetal surgical repair of anatomic anomalies to prenatal stem cell and gene therapy. He has extensive experience in developing rodent, canine, and sheep models for in utero transplantation and for investigating fetal surgery for anatomic malformations.
Dr. Cardinale's research is focused on understanding the mechanisms of gene expression and gene regulation in autoimmune diseases, including inflammatory bowel disease, type 1 diabetes, and systemic sclerosis. He uses data from large-scale genomic studies to identify disease-causing genetic variants and functionally explore the target genes of those variants.
Dr. Krantz's lab identifies and characterizes the molecular etiology of syndromic and non-syndromic developmental disorders. He has identified genes for several genetic conditions (Cornelia de Lange Syndrome, CHOPS syndrome, Alagille syndrome, hearing loss) implicating critical molecular pathways in human disorders for the first time. He has been at the forefront of studying the integration of genomics into clinical settings.
Dr. Mossé's research goal is to improve cure rates for the childhood cancer neuroblastoma by discovering the genetic basis of the disease and translating rational therapeutic opportunities to the clinic. She studies the contribution of DNA sequence variations and activation mutations of anaplastic lymphoma kinase (ALK) genes on the development and progression of both inherited and acquired forms of neuroblastoma.
Dr. Marks investigates the molecular mechanisms underlying the formation of cell type-specific lysosome-related organelles; the assembly, delivery and function of their contents; and how these processes are impacted by genetic diseases.
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.