Results for Genome-wide Association Studies

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. 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.

Dr. Ghanem investigates the impact of transcriptional gene expression controls and mRNA processing upon the severity and progression of pediatric inflammatory bowel disease.

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.

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. Zemel's overall research program aims to improve the understanding of lifelong health and how it relates to childhood antecedents of physical growth and maturation, body composition, population ancestry/genetics, and lifestyle factors. Such insight has practical implications for disease prevention and lifelong wellness, as well as broader scientific implications for understanding human plasticity and evolution.

Dr. Srinivasan is an attending neonatologist with the Pediatric Sepsis Program and the Division of Neonatology at Children's Hospital of Philadelphia. Her research focuses on biomarkers in neonatal inflammation and infection; and improving prediction, recognition and management of neonatal infections.

Dr. Wells studies the genetic, epigenetic, and transcriptional mechanisms that control T lymphocyte immunity and tolerance.

Dr. Pinney investigates the molecular mechanisms that link an adverse intrauterine milieu to the development of diabetes and obesity later in life. Specifically, she is researching how intrauterine growth restriction, gestational diabetes and in utero exposure to environmental toxicants contribute to the development of diabetes and obesity in offspring.