Results for Genomic Diagnostics

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.

Dr. Luo’s clinical research involves employing a variety of techniques to evaluate genetic and genomic alterations for integrated diagnosis of both constitutional disorders and cancer, and to understand the mechanisms of genomic changes.

Dr. Murrell specializes in next generation sequencing including clinical exome sequencing and is working to improve test utilization.

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.

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.

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. Olson aims to improve diagnostics and treatment of bone marrow failure (BMF) syndromes, and to improve clinical hematopoietic stem cell transplantation (HSCT) outcomes. He conducts clinical trials of HSCT for non-malignant hematologic diseases. His laboratory explores both basic and translational research focused on genomics of BMF and the impact of BMF on hematopoietic niche function during HSCT.

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. Glessner’s current research focuses on childhood neuropsychiatric and neurodevelopmental disorders along with the genetic architecture associated with them, including single nucleotide polymorphisms, single nucleotide variations, and copy number variations ascertained by genomic technologies.