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
April 21, 2022
Kelada and Mohlke awarded 5-year R01 from NIEHS
Dr. Samir Kelada (Associate Professor, Genetics) and Dr. Karen Mohlke (Professor, Genetics) were awarded a 5 year R01 from the National Institute of Environmental Health Sciences (NIEHS) titled “Regulatory Genomics of Ozone Air Pollution Response in Vitro and In Vivo”.
April 11, 2022
Department of Genetics Publications March 27th – April 9th, 2022
Department of Genetics faculty, postdocs, students and collaborators published 17 papers during March 27th – April 9th, 2022.
February 28, 2022
Department of Genetics Publications February 13th – 26th, 2022
Department of Genetics faculty, postdocs, students and collaborators published 11 papers during February 13th – 26th 2022.
January 6, 2022
Graduate Students Sarah Brotman (GMB) and Brandon Le (BCB) Participate in 2021 “Shadow a Scientist” Program
Sarah Brotman (GMB – Mohlke lab) and Brandon Le (BCB – Stein lab) participated (virtually) in the 2021 UNC “Shadow a Scientist” Program.
January 3, 2022
Department of Genetics Publications December 12th, 2021 – January 1st, 2022
Department of Genetics faculty, postdocs, students and collaborators published 14 papers during December 12th, 2021 – January 1st, 2022.
December 12, 2021
Department of Genetics Publications November 28th – December 11th, 2021
Department of Genetics faculty, postdocs, students and collaborators published 13 papers during November 28th – December 11th, 2021.
November 29, 2021
Department of Genetics Publications November 14th – 27th 2021
Department of Genetics faculty, postdocs, students and collaborators published 16 papers during November 14th – 27th 2021.
November 1, 2021
Department of Genetics Publications October 17th – 30th, 2021
Department of Genetics faculty, postdocs, students and collaborators published 14 papers during October 17th – 30th 2021.
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.