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. Tan studies transcriptional regulation during normal development and disease. This involves the interplay of multiple transcription and epigenetic factors in a 3D chromosomal environment. Using experimental genomics and computational modeling, Dr. Tan investigates transcriptional regulatory networks underlying embryonic hematopoiesis, T cell differentiation, and pediatric leukemia.
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. 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. Kelsen’sresearch 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. 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.