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

Publications

Shared and distinct interactions of type 1 and type 2 Epstein-Barr Nuclear Antigen 2 with the human genome. Viel, KC M F; Parameswaran, S; Donmez, OA; Forney, CR; Hass, MR; Yin, C; Jones, SH; Prosser, HK; Diouf, AA; Gittens, OE; Gewurz, B; Zhao, B; Kottyan, LC; Weirauch, MT. BMC Genomics. 2024; 25:273.

Genetic sex validation for sample tracking in next-generation sequencing clinical testing. Hu, J; Korchina, V; Zouk, H; Harden, MV; Murdock, D; Macbeth, A; Harrison, SM; Lennon, N; Kovar, C; Balasubramanian, A; Hynes, ED; Johnson, DK; Jones, LK; Joo, YY. BMC Research Notes. 2024; 17:62.

Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis. Correia Marques, M; Rubin, D; Shuldiner, EG; Datta, M; Schmitz, E; Gutierrez Cruz, G; Patt, A; Bennett, E; Grom, A; Foell, D; Thomson, W; Wedderburn, LR; Zeft, AS; Zeggini, E. Arthritis and Rheumatology. 2024; 76:1566-1572.

Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort. Virolainen, SJ; Satish, L; Biagini, JM; Chaib, H; Chang, WC; Dexheimer, PJ; Dixon, MR; Dunn, K; Fletcher, D; Forney, C; Shook, M; Weirauch, MT; Khurana Hershey, GK; Kottyan, LC. JCI insight. 2024; 9:e178258.

Elucidating a genomic signature associated with behavioral and executive function after moderate to severe pediatric TBI: a systems biology informed approach. Kurowski, BG; Treble-Barna, A; Pilipenko, V; Martin, LJ; Jegga, AG; Miley, AE; Zhang, N; Fabio, A; Chima, RS; Adlam, AL R; Kaufman, K; Bell, MJ; Beers, SR; Wisniewski, SR; Wade, SL. Frontiers in Systems Biology. 2024; 4:1293265.

Association between systemic lupus erythematosus and myasthenia gravis: A population-based National Study. Igoe, A; Merjanah, S; Harley, IT W; Clark, DH; Sun, C; Kaufman, KM; Harley, JB; Kaelber, DC; Scofield, RH. Clinical Immunology. 2024; 260:109810.

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; Przygodzki, RM; Ramoni, RB; Krull, HK; Bonomo, RA. 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; Kottyan, LC; Weirauch, MT; Hou, G; Shen, N. 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; Sun, YV; Tsao, PS; O’Donnell, CJ; Assimes, TL. Nature Medicine. 2022; 28:1679-1692.