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. 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. 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.
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. Boris is interested in the clinical outcomes in patients with postural orthostatic tachycardia syndrome, an increasingly recognized disorder of autonomic nervous system dysfunction that is estimated to affect as many as one to three million American children and adults.
Dr. Lambert's research focuses on understanding the mechanisms of inherited and acquired thrombocytopenia in pediatric patients. Using clinical translational methods to link discovery in rare platelet disorders with optimizing next-generation sequencing for clinical practice, she has been involved in the Undiagnosed Disease Network Program and the Frontier Program in Immune Dysregulation, incorporating genetics of platelet disorders and immunohematology.
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.
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.