Kenneth M. Kaufman, PhD

Professor, UC Department of Pediatrics

kenneth.kaufman@cchmc.org

About

Biography

I have always been interested in biology and computers. Genetics offers me the opportunity to combine both interests.

My team and I are interested in researching the genetics of complex diseases, including systemic lupus erythematosus or SLE (an autoimmune disease) and rheumatoid arthritis. In our research, we want to discover the type of genetic irregularities that raise the risk of disease or cause disease.

More specifically, we use trailblazing technologies, like next-generation DNA sequencing, to find variants that will increase the risk of disease or lead to conditions such as SLE. My colleagues and I want to uncover the systems these variants are responsible for changing. Finding these systems will assist us in developing new treatments for diseases.

We have created several bioinformatic pipelines meant for use as an assessment of whole exome and genome DNA data collections. These DNA data sets have been used in a clinical setting as well as in various research projects locally and nationally.

Our team, in collaboration with more than 75 partners, works to identify the genetics of several diseases that include cancer and immunological, developmental and neurological factors.

I have more than 25 years’ experience in biomedical informatics and I began working at Cincinnati Children’s Hospital in 2011. My research has been published in respected journals, such as Nature Genetics, Genes and Immunity, Human Molecular Genetics and Journal of Allergy and Clinical Immunology.

Interests

Genetics; bio-informatics

Research Areas

Biomedical Informatics

Publications

The US Department of Veterans Affairs Science and Health Initiative to Combat Infectious and Emerging Life-Threatening Diseases (VA SHIELD): A Biorepository Addressing National Health Threats. Harley, JB; Pyarajan, S; Partan, ES; Epstein, L; Wertheim, JA; Diwan, A; Woods, CW; Davey, V; Blair, S; Clark, DH; et al. Open Forum Infectious Diseases. 2022; 9:ofac641.

Lupus enhancer risk variant causes dysregulation of IRF8 through cooperative lncRNA and DNA methylation machinery. Zhou, T; Zhu, X; Ye, Z; Wang, YF; Yao, C; Xu, N; Zhou, M; Ma, J; Qin, Y; Shen, Y; et al. Nature Communications. 2022; 13:1855.

Whole Exome Sequencing in a Population With Severe Congenital Anomalies of Kidney and Urinary Tract. Harris, M; Schuh, MP; McKinney, D; Kaufman, K; Erkan, E. Frontiers in Pediatrics. 2022; 10:898773.

Large-scale genome-wide association study of coronary artery disease in genetically diverse populations. Tcheandjieu, C; Zhu, X; Hilliard, AT; Clarke, SL; Napolioni, V; Ma, S; Lee, KM; Fang, H; Chen, F; Lu, Y; et al. Nature Medicine. 2022; 28:1679-1692.

Epigenetic and transcriptional dysregulation in CD4+ T cells in patients with atopic dermatitis. Eapen, AA; Parameswaran, S; Forney, C; Edsall, LE; Miller, D; Donmez, O; Dunn, K; Lu, X; Granitto, M; Rowden, H; et al. PLoS Genetics. 2022; 18:e1009973.

A High Prevalence of Anti-EBNA1 Heteroantibodies in Systemic Lupus Erythematosus (SLE) Supports Anti-EBNA1 as an Origin for SLE Autoantibodies. Laurynenka, V; Ding, L; Kaufman, KM; James, JA; Harley, JB. Frontiers in Immunology. 2022; 13:830993.

Validation of low-coverage whole-genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth. Yang, Z; Slone, J; Wang, X; Zhan, J; Huang, Y; Namjou, B; Kaufman, KM; Pauciulo, M; Harley, JB; Muglia, LJ; et al. Human Mutation. 2021; 42:1602-1614.

Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis. Shoda, T; Kaufman, KM; Wen, T; Caldwell, JM; Osswald, GA; Purnima, P; Zimmermann, N; Collins, MH; Rehn, K; Foote, H; et al. Nature Communications. 2021; 12:6795.

CRISPRa screen on a genetic risk locus shared by multiple autoimmune diseases identifies a dysfunctional enhancer that affects IRF8 expression through cooperative lncRNA and DNA methylation machinery. Zhou, T; Zhu, X; Ye, Z; Wang, Y; Yao, C; Xu, N; Zhou, M; Ma, J; Qin, Y; Shen, Y; et al. 2021; 2021.06.11.448156.

Pleiotropy in the Genetic Predisposition to Rheumatoid Arthritis: A Phenome-Wide Association Study and Inverse Variance-Weighted Meta-Analysis. Kawai, VK; Shi, M; Feng, Q; Chung, CP; Liu, G; Cox, NJ; Jarvik, GP; Lee, MT M; Hebbring, SJ; Harley, JB; et al. Arthritis and Rheumatology. 2020; 72:1483-1492.