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.
As director of Clinical Laboratories, Strategic Partnerships and Innovation at the Center for Applied Genomics, Dr. Santani oversees the clinical genomics program for the diagnosis of common and rare genetic disorders.
Dr. Krantz's lab identifies and characterizes the molecular etiology of syndromic and non-syndromic developmental disorders. He has identified genes for several genetic conditions (Cornelia de Lange Syndrome, CHOPS syndrome, Alagille syndrome, hearing loss) implicating critical molecular pathways in human disorders for the first time. He has been at the forefront of studying the integration of genomics into clinical settings.
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. 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.
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.
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. 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. Grimberg investigates the growth hormone (GH)/insulin-like growth factor (IGF)-I axis and clinical issues related to child growth. Her recent research is focused on disparities in, and the decision-making related to, the medical management of children with short stature. She is fascinated by how differential societal pressures for tallness and the advent of an expensive therapeutic have transformed a fundamental aspect of pediatric healthcare.