Dr. Kalish's research focuses on understanding the molecular and epigenetic mechanisms that contribute to the predisposition to cancer that is characteristic of pediatric patients with rare imprinted gene disorders, including the overgrowth disorder Beckwith-Wiedemann syndrome (BWS).
Dr. Hakonarson is director of the Center for Applied Genomics and professor of Pediatrics at the Perelman School of Medicine, University of Pennsylvania. He leads a $40 million commitment from Children’s Hospital of Philadelphia to genomically characterize approximately 100,000 children, an initiative that has gained nationwide attention in the Wall Street Journal, New York Times, Time Magazine, Nature, and Science.
The Goldmuntz Laboratory manages a cardiac biorepository of case and parental samples, all of which have congenital heart disease. The lab has previously performed work assessing the functional significance of case variants in cardiac-related genes, and many of the samples managed by the lab have been array-genotyped for genome-wide association studies.
As a multidisciplinary center of excellence, providing specialized care for children with thyroid disorders and participating in collaborative clinical and translational basic science research within the University of Pennsylvania healthcare system and with other pediatric thyroid centers across North America.
The Kalish Lab studies the genetic and epigenetic causes of growth disorders and cancer predisposition. The lab focuses on studying Beckwith-Wiedemann syndrome (BWS), the most common epigenetic and cancer predisposition disorder, and also runs the BWS registry and biorepository.
The Vanderver Lab's translational research projects focus on characterizing the biological causes and clinical manifestations of leukodystrophies, a group of rare genetic disorders affecting the white matter of the brain. The lab's goal is to understand the molecular mechanisms of this disorder, identify new causative genes, improve the efficacy of novel diagnostic tools, refine and standardize clinical care guidelines, and accelerate the development of disease-specific clinical trials.