Dr. French came to CHOP in 2008 to establish the Human Pluripotent Stem Cell Core in the Center for Cellular and Molecular Therapeutics. She is an internationally recognized researcher involved in multi-investigator teams that utilize pluripotent stem cells for modeling human disease to study mechanism, development, and establish new therapeutic modalities.
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. Ackermann studies diabetes (types 1 and 2) and congenital hyperinsulinism using mouse models, cell lines, and primary human tissue. She aims to identify novel pathways regulating beta cell insulin secretion, leading to innovative therapeutic strategies for these disorders. Current studies include in vivo mouse physiology, ex vivo human islet physiology, CRISPR-Cas9 gene editing, epigenetic modification, and single-cell functional genomics.
Dr. Roizen's research program aims to understand non-calciometabolic effects of vitamin D and to use this understanding to design new therapeutic approaches to common diseases such as sarcopenia and obesity.
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. Hamilton studies intestinal epithelial cells and how they help maintain human health. Although there is a great deal understood about how these cells function, little is known about how they behave during disease. Dr. Hamilton focuses on defining new mechanisms in regenerative medicine, inflammatory bowel disease, and colorectal cancer.
Dr. Joffe's research addresses three areas. First, he studies leadership in biomedical science, including governance within learning healthcare systems and the role of the principal investigator in multicenter trials. Second, he studies the ethical questions raised by genomic sequencing in medicine and science. Finally, he studies the ethics of human subjects research, including informed consent and clinical research design.
Dr. Emanuel investigates diseases caused by abnormalities of human chromosome 22. These include the most common microdeletion syndrome, 22q11.2 deletion syndrome, and the most common recurrent constitutional translocation in humans, the t(11;22). Her efforts include discerning the mechanisms involved in generating the deletion and translocation as well as looking for modifiers of the phenotype in individuals with the deletion syndrome.