Results for Molecular Diagnosis

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.

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. 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.

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.

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.

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.

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.

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.

Dr. Gottardi leads the Bioengineering and Biomaterials (Bio²) lab, collaborating on clinical and research efforts to offer engineering solutions for pediatric health, primarily treatments for airway disorders. Dr. Gottardi researches mechanisms of laryngotracheal pathologies, applies tissue engineering to improve pediatric conditions, develops new devices, and formulates controlled drug delivery systems to treat and improve patients’ lives.

Dr. Balis's research focuses on the clinical pharmacology of anticancer drugs, new drug development, and clinical trial design and endpoints. He studies the pharmacokinetics and pharmacodynamics of anticancer drugs and has applied pharmacological principles to clinical trial design and clinical drug development. He is developing new biomarkers to serve as surrogate endpoints of drug toxicity or efficacy in clinical trials.