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.
- 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
Karen Mohlke in UNC Genetics News
September 9, 2021
Won, Mohlke, Love awarded UM1 as part of the new IGVF consortium at NHGRI
Hyejung Won (PhD, Assistant Professor, Department of Genetics, Neuroscience Center), Karen Mohlke (PhD, Professor, Department of Genetics), and Mike Love (PhD, Assistant Professor, Department of Biostatistics, Department of Genetics), were awarded a 5-year $9.25 million UM1 grant from the National Human Genome Research Institute (NHGRI) titled “Systematic in vivo characterization of disease-associated regulatory variants”. The …
August 9, 2021
Department of Genetics Publications for July 25th – August 7th 2021
Department of Genetics faculty, postdocs, students and collaborators published 12 papers during July 25th – August 7th 2021.
June 28, 2021
Department of Genetics Publications for June 13-26, 2021
Department of Genetics faculty, postdocs, students and collaborators published twenty one papers during June 13-26, 2021.
June 14, 2021
Department of Genetics Publications for May 30 – June 12, 2021
Department of Genetics faculty, postdocs, students and collaborators published seventeen papers during May 30 – June 12, 2021.
May 29, 2021
Department of Genetics Publications for May 16-29, 2021
Department of Genetics faculty, postdocs, students and collaborators published nineteen papers during May 16-29, 2021.
May 28, 2021
Karen Mohlke, PhD Reappointed as Oliver Smithies Investigator
Dr. Karen Mohlke (Professor, Department of Genetics) has been reappointed for an additional five years as an Oliver Smithies Investigator.
May 2, 2021
Department of Genetics Publications for April 18 – May 1, 2021
Department of Genetics faculty, postdocs, students and collaborators published thirteen papers during April 18 – May 1, 2021.
April 9, 2021
Drs. Mohlke and Gregory Elected to SOM Standing Committees
The Office of Faculty Affairs and Leadership Development and the School of Medicine Nominating Committee announced the results of the 2021 Standing Committees election.
March 20, 2021
Department of Genetics Publications for March 7-20, 2021
Department of Genetics faculty, postdocs, students and collaborators published ten papers during March 7-20, 2021.
December 8, 2020
Karen Mohlke, PhD Recognized for Excellence in Basic Science Mentoring
Dr. Karen Mohlke (Professor and Associate Chair for Research, Department of Genetics) has been recognized by the Office of Graduate Education (OGE) with one of this year’s Awards for Excellence in Basic Science Mentoring.