Dr. Marks investigates the molecular mechanisms underlying the formation of cell type-specific lysosome-related organelles; the assembly, delivery and function of their contents; and how these processes are impacted by genetic diseases.
Dr. Davidson works to understand the molecular basis of childhood onset neurodegenerative diseases and the development of gene and small molecule therapies for treatment. She also focuses on how noncoding RNAs participate in neural development and neurodegenerative disease processes, and how they can be harnessed for therapies.
Dr. Lin studies RNA modifications (a.k.a "epitranscriptomics") in human diseases, including cancer. She develops and applies high-throughput sequencing strategies and transcriptome engineering technologies to study the regulation and function of RNA modifications, including A-to-I RNA editing and m6A RNA methylation.
Dr. Xing is the Francis West Lewis Chair and director of the Center for Computational and Genomic Medicine at CHOP, and professor of Pathology and Laboratory Medicine at the University of Pennsylvania. His research focuses on computational biology and genomics of RNA processing and regulation.
Dr. Roizen's research program aims to understand non-calciometabolic effects of vitamin D and to use this understanding to design new therapeutic approaches to common diseases such as sarcopenia and obesity.
Dr. Margaritis uses biochemical, molecular, and complex in vivo methodology within the field of coagulation to advance the understanding of molecular mechanisms involved in pro- and anti-coagulant reactions, and translate research for the treatment of coagulation defects.
Dr. Blobel investigates the fundamental mechanisms involving transcription factors, chromatin regulators, and higher order chromatin. He is gearing his basic science discoveries towards genetic and epigenetic treatment modalities. In addition, Dr. Blobel is interested in mechanism of epigenetic memory.
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. Emanuel investigates diseases caused by abnormalities of human chromosome 22. These include the most common microdeletion syndrome, 22q11.2 deletion syndrome, and the most common recurrent constitutional translocation in humans, the t(11;22). Her efforts include discerning the mechanisms involved in generating the deletion and translocation as well as looking for modifiers of the phenotype in individuals with the deletion syndrome.