Mark Kos, PhD

Research Focus

Dr. Kos’ research interests are predominantly in statistical genetics, epidemiology, and the genetic underpinnings of complex traits. Dr. Kos has been investigating the etiology of genetic generalized epilepsy (GGE) in baboons, which serve as a natural model for the condition. Recent analyses of whole-genome sequence data for baboons at the Southwest National Primate Center (San Antonio, TX) found a significant association with RBFOX1, a gene involved in neuronal excitation in the mammalian brain and previously implicated in human GGE, suggesting a shared etiology between the species. Moreover, an enrichment of protein-damaging variants involved in the extra-cellular matrix, a key structural component of neuronal differentiation, were observed among top association results for GGE, providing key insights into the broader genetic architecture. Expanded genetic analyses are planned, as well as studies for identifying and validating quantitative biomarkers for epileptogenesis, with a focus on structural and functional neural connectivity.

Dr. Kos has begun a new collaborative research project with Dr. Melanie Carless at The University of Texas at San Antonio examining the epigenetics of energy homeostasis, body composition, and obesity in high-risk Hispanic children through next generation sequencing of DNA methylation sites in peripheral blood samples from the Viva la Familia cohort. DNA methylation signatures that are found to be associated with energy homeostasis and obesity will be further assessed for their potential effects on cellular respiration, glycolysis, and fatty acid oxidation through CRISPR-based epigenetic editing of induced pluripotent stem cells.

At the STDOI Metabolomics Laboratory, Dr. Kos helped develop novel software for inter-sample peak matching and quantification of untargeted two-dimensional gas chromatography (GC×GC TOF-MS) profiles. With Drs. Harald Goring and Pete Stevens at STDOI, the software will be used to investigate metabolomics data from blood plasma samples obtained from Mexican American families, with the aim of identifying early metabolomic biomarkers for type 2 diabetes.