The research focus of my lab is to use genomic medicine (a structured approach to disease diagnosis and management that prominently features next-generation sequencing and analysis at a genome scale) to diagnose, discover, and investigate rare monogenic genetic disorders and to apply genomics to understand immune-mediated disorders.
Rare Genetic Diseases
My research has primarily focused on the development, validation, and analysis of clinical next-generation sequencing tests for the diagnosis of rare, monogenic, childhood disorders and implementation of research based tests to discover novel causes of genetic conditions. From 2011 to 2013 as the Director of Lab Operations for the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital & Clinics in Kansas City, MO my responsibilities included lead and manage the design, development, and deployment of sequence production workflows and quality control systems in support of the Center’s operations to develop next generation sequencing based clinical tests. While at the Children’s Mercy Hospital, my research contributed to enhancing the diagnostic capabilities of genomic testing for infants displaying symptoms of monogenetic (or rare) genetic diseases. I was part of the team that developed and validated a clinical next-generation sequencing diagnostic test that targets 552 genes known to cause rare childhood-onset disease. The test has subsequently been licensed by Illumina®. In addition, I was also a co-first author of a proof of principle study published in Science Translational Medicine that demonstrated the feasibility of 50 hour whole genome sequencing and analysis in the neonatal intensive care unit at Children’s Mercy Hospital to assist in the diagnosis of rare diseases. This research was featured in the New York Times and TIME as being one of the first promising clinical uses of genomic medicine. At the University of New Mexico my lab will continue to push next-generation sequencing into the clinic to investigate rare genetic disorders.
My lab also uses genomics to research and understand immune function in humans. Current studies include investigating the cause of primary immunodeficiencies, and investigating the role of genetics in the susceptibility to and clearance of infections, and the development and progression of immune-mediated disorders, such as inflammatory bowel disease. My lab uses exome and genome sequencing to discover the genetic cause of novel and atypical primary immunodeficiencies. For example, we were able to discover mutations in the gene PLDN as a cause of a Hermansky-Pudlak-like primary immunodeficiency syndrome and a described in one family how combined mutations in two genes, DOCK8 and CLEC7A produced an atypical immunodeficiency. Additional studies in my lab are investigating the role of genetics in the susceptibility to and progression of sepsis and the childhood onset inflammatory bowel disease.