Results for Exome Sequencing

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

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. 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. Hunger's focuses his research on molecular and genomic approaches to identify and clinically evaluate targeted cancer treatments for children with relapsed or high-risk acute lymphoblastic leukemia (ALL) such as Philadelphia chromosome-like (Ph-Like) ALL. The long-term goal of Dr. Hunger’s research is to develop better therapies, improve cure rates, and minimize treatment toxicities for children with ALL.

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. MacFarland's research focuses on syndromes that predispose to cancer development in children and adolescents. She has initiated several individual and collaborative research projects, working in pediatric polyposis syndromes and Li-Fraumeni syndrome. She is uncovering novel genomic drivers of disease and identifying biomarkers of cancer onset and progression.

Dr. Henrickson investigates the mechanisms of T cell dysfunction in monogenic primary immunodeficiency and chronic inflammatory disease, including asthma and obesity, and primary immunodeficiency.