Scott T. Younger, PhD
Director, Disease Gene Engineering, Genomic Medicine Center; Assistant Professor of Pediatrics, University of Missouri-Kansas City School of Medicine; Research Assistant Professor of Pediatrics, University of Kansas School of MedicineFull Biography
Scott Younger, PhD, Genomic Medicine Center, was awarded a five-year, $3.1 million NIH R01 grant from Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Institutes of Health.
He also received a $245,138 supplement from the NICHD (project period Sept. 1, 2023-Nov. 30, 2023) to further support the biological base and policy development for the parent R01 grant.
Dr. Younger’s project, "Systematic Identification and Phenotypic Characterization of Causal Genetic Variants in Rare Disease-Associated Birth Defects,” looks to distinguish specific genetic variants that cause congenital birth defects.
As Dr. Younger explains, although the implementation of whole exome sequencing (WES) and whole genome sequencing (WGS) in a clinical setting has greatly helped the identification of birth defect-associated genetic variants, distinguishing the specific variants that cause congenital defects remains a major challenge. More specifically, most variants detected in clinical sequencing occur in genes not previously associated with disease or in noncoding regions of the genome that lack predictable functional consequences.
Dr. Younger and his team are utilizing the Children’s Mercy Research Institute’s pediatric genetic data repository to guide the development of scalable cell-based systems that, when coupled with phenotypic validation in both animal and patient-derived organoid models, will systematically identify genetic variants that are responsible for congenital defects in the organizations’ undiagnosed rare disease patient population.
“These methods will rapidly accelerate the process of identifying causal variants,” said Dr. Younger. “Enhancing the ability to illuminate causal variants holds the promise of improving the quality of life for patients and in some cases may provide a window for therapeutic intervention that would otherwise be missed.”
The contents are those of the investigator and do not necessarily represent the official views of, nor an endorsement, by NIH, or the U.S. Government.