Scott T. Younger, PhD
Director, Disease Gene Engineering; Assistant Professor of Pediatrics, University of Missouri-Kansas City School of Medicine; Research Assistant Professor of Pediatrics, University of Kansas School of Medicine
Full BiographyScott Younger, PhD, Genomic Medicine Center, recently received a one-year, $49,999 Patton Trust grant from BioNexus KC.
Dr. Younger’s study, “Scalable systems for the identification of splice-disrupting genetic variants in pediatric rare disease genomes,” will develop scalable systems to evaluate the molecular consequences of rare genetic variants.
Whole Genome Sequencing (WGS) is a comprehensive method for analyzing entire genomes. However, the ability to determine the clinical significance of genetic variants is primarily restricted to regions of the genome that code for proteins, less than 2% of the human genome. The challenges associated with predicting the functional consequences of genetic variants located within noncoding sequences, more than 98% of the human genome, are a significant factor in the low diagnosis rates for rare disease patients.
Dr. Younger and his team will develop high-throughput experimental technologies for evaluating the molecular consequences of genetic variants at scale. His team will utilize these technologies to profile rare genetic variants identified at the Children’s Mercy Research Institute through its Genomic Answers for Kids program.
This study will catalog rare intronic variants associated with the most prevalent clinical presentations in Children’s Mercy’s undiagnosed rare disease patient population. The research team will then profile the impact of the intronic variants on RNA splicing and validate the association between variant-harboring genes and rare disease phenotypes. Components of this work will involve collaborative efforts between Dr. Younger’s team and the laboratory of Dr. Paul Trainor at the Stowers Institute for Medical Research.
“Support from this grant enables us to develop cutting-edge genomic technologies that will dramatically impact our ability to interpret genetic variation detected in the genomes of children living with an undiagnosed rare disease,” Dr. Younger said. “We’re optimistic that data generated as part of this study will lead to long-awaited answers for many families in our community directly impacted by rare disease.”
BioNexus KC’s Patton Trust Research Development Grants specifically focuses on the genetic basis of diseases that predominately affect children.