Results for Rare Disease

1 - 10 of 384

Dr. Zee's statistical methods research includes topics in survival analysis, measurement error, observational data methods, and machine learning. Her clinical research is focused on kidney disease, specifically in clinical and pathology markers of glomerular and chronic kidney disease progression.

E-mail:

zeej [at] chop.edu

Samuel B. Goldfarb, MD

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.

E-mail:

goldfarb [at] chop.edu

David R. Lynch, MD, PhD

Dr. Lynch maintains a dynamic program that involves clinical, translational, and basic science research efforts focused on the rare disease Friedreich ataxia.

E-mail:

lynch [at] chop.edu

Xilma R. Ortiz-Gonzalez, MD, PhD

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.

Ian M. Cambell, MD, PhD

Dr. Campbell is interested in approaches to improve diagnosis of children with rare genetic diseases. He also focuses on better understanding of the full spectrum of symptoms associated with genetic diseases as well as discovering new diseases.

E-mail:

campbellim [at] chop.edu

Kathleen Loomes, MD

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.

E-mail:

loomes [at] chop.edu

Lisa R. Young, MD

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.

E-mail:

youngL5 [at] chop.edu

Adeline L. Vanderver, MD

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.

E-mail:

vandervera [at] chop.edu

Sharon McGrath-Morrow, MBA, MD

Dr. McGrath-Morrow is associate chief of the Division of Pulmonary and Sleep Medicine and leader of the Post-preemie Lung Disease Clinic at Children’s Hospital of Philadelphia. Her research seeks to link early life events with adult lung health and biomarker discovery for future trials.

E-mail:

mcgrathmos [at] chop.edu

Matthew A. Deardorff , MD, PhD

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.

E-mail:

deardorff [at] chop.edu