Results for Rare Disorder Natural History Studies and Clinical Trials

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. 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. 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.