Results for Molecular Diagnosis

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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

John M. Maris, MD

Dr. Maris investigates the molecular and genetic mechanisms contributing to the development and progression of neuroblastoma, a common childhood cancer. He also aims to develop new molecular diagnostic tests and less toxic, targeted therapies to treat relapsed or refractory neuroblastoma, including a major effort in immunotherapy discovery and development.

E-mail:

maris [at] chop.edu

Pedro Gonzalez-Alegre, MD, PhD

Dr. Gonzalez-Alegre's long-range research goal is to advance the application of precision medicine in the neurology clinic. His research focus revolves around genetic disorders that affect the brain, spanning from the diagnosis of novel genetic disease in the clinic to the identification of novel molecular targets using disease models and the design of early-phase human clinical trials.

E-mail:

gonzalezap [at] chop.edu

Kai Wang, PhD

Dr. Wang's research focuses on the development of bioinformatics methods to improve the understanding of the genetic basis of human diseases, and the integration of electronic health records and genomic information to facilitate genomic medicine on scale.

E-mail:

wangk [at] chop.edu

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

William H. Peranteau, MD

Dr. Peranteau is an attending surgeon in the Division of Pediatric General, Thoracic and Fetal Surgery and an associate professor of Surgery at CHOP. His research interest is in fetal development as it relates to the potential understanding of and fetal intervention for congenital anomalies.

E-mail:

peranteauw [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

Theodore Laetsch, MD

Dr. Laetsch is a pediatric oncologist who provides clinical care and conducts research with the overarching goal of improving treatment options for children with difficult to treat cancers.

E-mail:

laetscht [at] chop.edu

Pamela F. Weiss, MD, MSCE

Dr. Pamela Weiss is an experienced academic pediatric rheumatologist with advanced training in clinical epidemiology and a focus on early diagnosis, accurate phenotyping, and targeted treatment of children with juvenile arthritis. Her research consists of a mixture of prospective interventional, prospective observational and retrospective large database-driven work.

E-mail:

weisspa [at] chop.edu

Lakshmi Srinivasan, MD, FAAP

Dr. Srinivasan is an attending neonatologist with the Pediatric Sepsis Program and the Division of Neonatology at Children's Hospital of Philadelphia. Her research focuses on biomarkers in neonatal inflammation and infection; and improving prediction, recognition and management of neonatal infections.

E-mail:

srinivasanl [at] chop.edu