Dr. Goldfarb has special interests in the treatment of children with end-stage lung disease such as cystic fibrosis, interstitial lung disease, pulmonary late effects of oncology treatments, and other pulmonary disorders.
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. 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. 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.
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.
Dr. Young’s translational research program aims to understand mechanisms underlying interstitial and rare lung diseases and develop new strategies to treat these disorders. Her laboratory focuses on the roles of epithelial cells in alveolar homeostasis, injury, and repair.
Dr. Romberg investigates the regulatory mechanisms enabling our immune systems to fight infections without injuring ourselves. He is particularly interested in the immune system of patients with primary immunodeficiency who are susceptible to both life-threatening infections and autoimmune diseases. Greater insights into these rare diseases may enable rationale development of targeted therapies for more common diseases with an immunologic basis.
In addition to serving as chief of the Division of Gastroenterology, Hepatology, and Nutrition, Dr. Piccoli pursues research about metabolic and genetic liver disease, inflammatory bowel disease, and rare gastrointestinal disorders. He is a member of the group that discovered Jagged1 and NOTCH2 as the primary causes of Alagille syndrome.
Dr. Deardorff’s work integrates patient information with genomics and cell biology to diagnosis and understand rare genetic disease. His research focuses on disorders caused by dysregulation of chromatin or altered translational regulation, specifically, Cornelia de Lange, Coffin-Siris, Skraban-Deardorff and KBG syndromes.