Results for Sequencing

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

Dr. Grant uses high-throughput genotyping and sequencing technologies, combined with statistical and bioinformatic approaches, to unravel genomic puzzles related to multiple common complex traits.

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. 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. Kelsen’s research focus is on the genetic, immunologic, and microbiomic causes of very early onset inflammatory bowel disease. Through a multidisciplinary team approach, Dr. Kelsen and her colleagues perform genetic sequencing to identify causative genetic variants in children with VEO-IBD, study the function of these variants, and use this information to improve the clinical outcomes for these children.

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. Diskin's research is focused on translational genomics in childhood cancers. Her laboratory seeks to identify the genetic basis of childhood cancers by combining quantitative computational methods with rigorous "wet-lab" experimental approaches. In parallel, she has developed, and is applying, a proteogenomic approach to identify novel immunotherapeutic targets for high-risk and relapsed pediatric malignancies.

Dr. Lambert's research focuses on understanding the mechanisms of inherited and acquired thrombocytopenia in pediatric patients. Using clinical translational methods to link discovery in rare platelet disorders with optimizing next-generation sequencing for clinical practice, she has been involved in the Undiagnosed Disease Network Program and the Frontier Program in Immune Dysregulation, incorporating genetics of platelet disorders and immunohematology.

Dr. Joffe's research addresses three areas. First, he studies leadership in biomedical science, including governance within learning healthcare systems and the role of the principal investigator in multicenter trials. Second, he studies the ethical questions raised by genomic sequencing in medicine and science. Finally, he studies the ethics of human subjects research, including informed consent and clinical research design.

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.