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. Loomes' research is focused on clinical and translational studies in pediatric liver disease. She works with National Institutes of Health-funded national consortia to conduct studies investigating the etiology and treatment for rare pediatric liver diseases including biliary atresia, Alagille syndrome, and others. Dr. Loomes also collaborates with other investigators at Children’s Hospital of Philadelphia to investigate genetic causes of pediatric liver disease.
Dr. Hartung's clinical and translational research program focuses on autosomal recessive polycystic kidney disease and other genetic kidney diseases, development of new kidney and liver imaging biomarkers, and neurocognitive outcomes in children with chronic kidney disease.
Dr. Falk is a Clinical Geneticist who serves as executive director of the Mitochondrial Medicine Frontier Program. Her translational research lab investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies, in C. elegans, zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction.
Dr. Silverman studies the fundamental aspects of early-life commensal microbes that influence immune system development and function. He discovered that the MHC-II E molecule prevents type 1 diabetes by shaping the intestinal microbiota early in life.
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. Yan works to understand the clinical aspects and treatment of pediatric genetic skin disorders including atopic dermatitis, acne, vascular anomalies, and ichthyoses. He is interested in developing new software and technologies to facilitate the diagnosis and treatment of pediatric skin disease.
Dr. Kelsen’sresearch focus is on the genetic, immunologic, and microbiomic causes of very early onset inflammatory bowel disease. Through a multidisciplinary team approach, Dr. Kelsen and her colleagues perform genetic sequencing to identify causative genetic variants in children with VEO-IBD, study the function of these variants, and use this information to improve the clinical outcomes for these children.
Dr. Mitchell's research aims to explain variations in childhood growth patterns related to the causes and prevention of diseases in later life. This includes studying the impact of behaviors and genes on body composition during development, especially childhood sleep and physical activity behavior.
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.