Research Interests
Key words: human genetics and genomics, diabetes, obesity, lipids, complex diseases, genome-wide association studies, transcriptomics, and epigenomics
Identify Genetic Loci Associated with Complex Diseases and Traits
To identify genetic variants that confer disease susceptibility or influence variability in related traits, we conduct genome-wide association studies (GWAS) in human population studies. In recent years, we and our collaborators have used this approach to identify hundreds of new genetic loci associated with type 2 diabetes, obesity, cholesterol levels, metabolic traits, and cardiovascular risk factors. Large-scale meta-analyses and other multidisciplinary collaborations are key to many of these discoveries. We also study how genetic variants interact with environmental factors to influence the underlying biology of complex diseases and traits.
Characterize Disease- and Trait-Associated Variants
Loci identified by GWAS usually contain many variants in strong linkage disequilibrium with each other, and the genes responsible for most GWAS loci are unclear. We use computational approaches to identify candidate genes and candidate variants, especially at loci with putative regulatory mechanisms. Genome-wide data sets containing information about gene expression, chromatin structure, transcription factor binding, and epigenetic marks in human cells are important resources for identifying genes and regulatory regions. By generating and analyzing transcriptomic and epigenomic data sets, we identify regulatory elements and genes that vary due to genetic or environmental perturbation. We use these data to identify trait-associated variants likely to regulate gene regulation.
Investigate Molecular and Biological Mechanisms
For most loci identified by association studies, the underlying molecular and biological mechanisms remain unknown. Determining the biological basis for the associations of genetic loci with complex diseases and traits will improve our general scientific understanding of pathways contributing to disease etiology. We employ molecular and cellular biology techniques such as CRISPR/Cas-based genome editing to identify the functional variant(s) and gene(s) at these loci, explain the molecular mechanisms linking functional variant(s) to gene(s), and characterize the biological mechanisms linking gene(s) to metabolic traits.
Mentor Training:
- Bias 101
- Culturally Aware Mentoring
- Faculty Mentoring Workshop for Biomedical Researchers
- Mental Health First Aid
- REI Groundwater Training Phase 1
- Unconscious Bias Awareness
Training Program Affiliations:
- Bioinformatics and Computational Biology
- Genetics and Molecular Biology
Publications
Karen Mohlke in UNC Genetics News

January 20, 2025
Department of Genetics Publications for January 5th – 18th, 2025
Department of Genetics faculty, postdocs, students and collaborators published 18 papers during January 5th - 18th, 2025.

January 6, 2025
Department of Genetics Publications for December 22nd, 2024 – January 4th, 2025
Department of Genetics faculty, postdocs, students and collaborators published 11 papers during December 22nd, 2024 - January 4th, 2025.

October 17, 2024
Department of Genetics Publications for September 29th – October 12th, 2024
Department of Genetics faculty, postdocs, students and collaborators published 13 papers during September 29th - October 12th, 2024.

October 14, 2024
Department of Genetics Publications for September 15th – 28th, 2024
Department of Genetics faculty, postdocs, students and collaborators published 22 papers during September 15th - 28th, 2024.

September 1, 2024
Department of Genetics Publications for August 18th – 31st, 2024
Department of Genetics faculty, postdocs, students and collaborators published 18 papers during August 18th - 31st 2024.

May 13, 2024
Dr. Karen Mohlke Awarded R01 Competitive Renewal from NIDDK
Karen Mohlke, PhD (Professor, Department of Genetics) was awarded a R01 from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK).

March 17, 2024
Department of Genetics Publications for March 3rd – 16th, 2024
Department of Genetics faculty, postdocs, students and collaborators published 13 papers during March 3rd - 16th 2024.

March 3, 2024
Department of Genetics Publications for February 18th – March 2nd, 2024
Department of Genetics faculty, postdocs, students and collaborators published 11 papers during February 18th - March 2nd 2024.

February 19, 2024
Department of Genetics Publications for February 4th – 17th, 2024
Department of Genetics faculty, postdocs, students and collaborators published 12 papers during February 4th - 17th 2024.

February 5, 2024
Department of Genetics Publications for January 21st – February 3rd 2024
Department of Genetics faculty, postdocs, students and collaborators published 9 papers during January 21st - February 3rd 2024.