Mark Kos, Ph.D.

Assistant Professor of Research

South Texas Diabetes and Obesity Institute

School of Medicine

Office: San Antonio Technology Center, Room 320.07
3463 Magic Drive
San Antonio, TX  78229
Phone: +1 (210)-585-9772
Email: mark.kos@utrgv.edu

Education

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.

Publication Highlights

• Kos MZ, Carless MA, Blondell L, Leland MM, Knape KD, Göring HHH, and Szabó CA (2021) Whole genome sequence data from captive baboons implicate RBFOX1 in epileptic seizure risk. Frontiers in Genetics 12: 714282.
• Kos MZ, Duan J, Sanders AR, Blondell L, Drigalenko EI, Carless MA, MGS, Gejman PV, and Göring HHH (2018) Dopamine perturbation of gene co-expression networks reveals differential response in schizophrenia for translational machinery. Translational Psychiatry 8(1): 278.
• Kos MZ, Carless MA, Peralta J, Curran JE, Quillen EE, Almeida M, Blackburn, A, Blondell L, Roalf DR, Pogue-Geile MF, Prasad K, Gur RC, Göring HHH, Nimgaonkar V, Gur RE, and Almasy L (2017) Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performance. American Journal of Medical Genetics Part B 174(8): 817-827.
• Kulkarni H, Kos MZ, Neary J, Dyer TD, Kent JW Jr, Göring HH, Cole SA, Comuzzie AG, Almasy L, Mahaney MC, Curran JE, Blangero J, and Carless MA (2015) Novel epigenetic determinants of type 2 diabetes in Mexican-American families. Human Molecular Genetics 24(18): 5330-5344.
• Recent Publications
• Kos MZ, Carless MA, Blondell L, Leland MM, Knape KD, Göring HHH, Szabó CÁ. Whole genome sequence data from captive baboons implicate RBFOX1 in epileptic seizure risk. Front Genet. 2021 Aug 20;12:714282. doi: 10.3389/fgene.2021.714282.
• Blackburn AN, Blondell L, Kos MZ, Blackburn NB, Peralta JM, Stevens PT, Lehman DM, Blangero J, Göring HHH. Genotype phasing in pedigrees using whole-genome sequence data. Eur J Hum Genet. 2020 Jun;28(6):790-803. doi: 10.1038/s41431-020-0574-3. Epub 2020 Jan 29. PMID: 31996801
• Arya R, Escalante A, Farook VS, Restrepo JF, Battafarano DF, Almeida M, Kos MZ, Fourcaudot MJ, Mummidi S, Kumar S, Curran JE, Jenkinson CP, Blangero J, Duggirala R, Del Rincon I. A genetic association study of carotid intima-media thickness (CIMT) and plaque in Mexican Americans and European Americans with rheumatoid arthritis. Atherosclerosis.. 2018 Apr; 271:92-101. doi: 10.1016/j.atherosclerosis.2017.11.024. Epub 2017 Nov 26. PMID: 29482039
• Arya R, Escalante A, Farook VS, Restrepo JF, Battafarano DF, Almeida M, Kos MZ, Fourcaudot MJ, Mummidi S, Kumar S, Curran JE, Jenkinson CP, Blangero J, Duggirala R, Del Rincon I. Data on genetic associations of carotid atherosclerosis markers in Mexican American and European American rheumatoid arthritis subjects. Data Brief. 2018 Feb 8; 17:820-829. doi: 10.1016/j.dib.2018.02.006. eCollection 2018 Apr. PMID: 29527544
• Blondell L, Blackburn A, Kos MZ, Blangero J, Göring HHH. Contribution of Inbred Singletons to Variance Component Estimation of Heritability and Linkage. Hum Hered. 2018;83(2):92-99. doi: 10.1159/000492830. Epub 2018 Nov 2. PMID: 30391948
• Duan J, Göring HHH, Sanders AR, Moy W, Freda J, Drigalenko EI, Kos M, He D, Gejman PV; MGS. Transcriptomic signatures of schizophrenia revealed by dopamine perturbation in an ex vivo model. Transl Psychiatry. 2018 Aug 16;8(1):158. doi: 10.1038/s41398-018-0216-5. PMID: 30115913
• Kos MZ, Duan J, Sanders AR, Blondell L, Drigalenko EI, Carless MA, Gejman PV, Göring HHH; MGS.  Dopamine perturbation of gene co-expression networks reveals differential response in schizophrenia for translational machinery.  Transl Psychiatry. 2018 Dec 13;8(1):278. doi: 10.1038/s41398-018-0325-1. PMID: 30546022
• Kos MZ, Carless MA, Peralta J, Curran JE, Quillen EE, Almeida M, Blackburn A, Blondell L, Roalf DR, Pogue-Geile MF, Gur RC, Göring HHH, Nimgaonkar VL, Gur RE, Almasy L. Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performance. Am J Med Genet B Neuropsychiatr Genet. 2017 Dec;174(8):817-827. doi: 10.1002/ajmg.b.32597. Epub 2017 Sep 13. PMID: 28902459

Manuscript Review

• Archives of General Psychiatry
• Human Biology
• American Journal of Physical Anthropology
• Frontiers in Genetics
• Journal of the American Medical Association (JAMA)
• Schizophrenia Bulletin

Collaborating Institutions

• State University of New York
• Texas Biomedical Research Institute
• The University of Texas at San Antonio
• The University of Texas Health Science Center at San Antonio
• University of Chicago
• University of Pennsylvania
• Yale University School of Medicine