Results for Genetic Testing

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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.

E-mail:

spinner [at] chop.edu

Marni J. Falk, MD

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.

E-mail:

falkm [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

Daniel P. Kelly, MD

Dr. Kelly’s research career began with deciphering the genetic basis of inborn errors in metabolism in children, followed by a series of breakthrough discoveries relevant to the diagnosis and treatment of common forms of heart failure in the general population.

E-mail:

dankelly [at] pennmedicine.upenn.edu

Sarah K. Tasian, MD

Dr. Tasian's research centers on the bench-to-bedside investigation of precision medicine therapies for high-risk childhood leukemias.

E-mail:

tasians [at] chop.edu

Charles A. Stanley, MD

Dr. Stanley’s lab has identified many of the genes and syndromes associated with congenital hyperinsulinism including ABCC8, GCK, GLUD1, and Turner and Beckwith syndromes. Working with clinical and rodent model studies, his lab team has identified distinctive phenotypes of these disorders, including diazoxide unresponsiveness, leucine sensitivity, and protein sensitivity. Dr. Stanley continues to seek new diagnostic and treatment paradigms for infants with acquired and genetic disorders of hyperinsulinism.

E-mail:

stanleyc [at] chop.edu

Peter Kurre, MD

Dr. Kurre's laboratory has longstanding expertise in Fanconi Anemia (FA), a genetic condition with prominent hematologic complications. With training in transplantation and hematopoietic stem cell biology, he hopes to improve the understanding of the progressive hematopoietic failure in patients with bone marrow failure and FA, broaden diagnostic approaches, and develop next generation therapies.

E-mail:

kurrep [at] chop.edu

Robert B. (Brad) Lindell, MD

Dr. Lindell’s research program is centered on the biology of critical illness in children with immune dysfunction. His current translational research is focused on pediatric septic shock and the development of multiple organ dysfunction syndrome (MODS) in critically-ill children.

E-mail:

lindellr [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

Elizabeth Lowenthal, MD, MSCE

Dr. Lowenthal's work is focused on addressing health priorities for children in resource-limited settings. In addition to research projects she serves as research director for the Children's Hospital of Philadelphia Global Health Center, supporting junior researchers (and senior researchers newly working in international settings) to develop projects addressing other health priorities for children in resource-limited settings.

E-mail:

lowenthale [at] chop.edu