What We Do
African American Genomic Medicine
Anticoagulant Pharmacogenomics
Prescribing the right drug at the right dose for the right patient
Anticoagulants remain some of the most dangerous drugs taken in the US. We investigate if a patient's genome can predict the therapeutic dose, or adverse effects (e.g. bleeding) associated with these drugs. This information could be used to help doctors select the safest and most effective medication for each patient.
Genomics of Drug Metabolism
Genetic biomarkers that regulate drug metabolism
The liver metabolizes over 70% of drugs currently prescribed in the US. However, we still do not understand the genes and genetic mutations that regulate these important hepatic enzymes. We are investigating the role of genetic variation and DNA methylation in the regulation of gene expression of drug metabolizing enzymes (DMEs) and other gene within the liver in African Americans (funded NIMDH). Click here for details on this project.
ACCOuNT
African American Cardiovascular Pharmacogenomics Consortium
ACCOuNT is a NIMHD funded Collaborative Consortium aimed at accerateing the pace of pharmacogenomic discovery and translation in African Americans. We have brought together investigators at 2 major US cities (Chicago and DC), as well as clinical, pharmacogenomic and informatics experts to build a sustainable research consortium. Click here for more details, or on our website for all the ongoing research here.
Follow the consortium on Twitter @ACCOuNT_NU.
Functional Genomics
Uncovering the biology behind genomic associations.
Many of our discoveries in African Americans implicate novel genes in both drug response and disease risk. However, uncovering the functional implication of these genetic variants is equally important as they shed light on the underlying biology driving drug response and disease. Because of our focus on cardiovascular diseases, many of our finding are relevant to changes in vascular endothelial cells and platelets. We use multiple cell and molecular biology approaches to uncover how associated SNPs affect the transcription and translation of important genes.
eMERGE
Using the electronic health record to personalize healthcare.
The Electronic Medical Records and Genomics (eMERGE) Network is a National Institutes of Health (NIH)-organized and funded consortium of U.S. medical research institutions. The Network brings together researchers with a wide range of expertise in genomics, statistics, ethics, informatics, and clinical medicine from leading medical research institutions across the country to conduct research in genomics, including discovery, clinical implementation and public resources. we are involved in the analysis on the newest eMERGE sequencing data. We hope to identify novel variants in genes important to drug response.
Recent Publications
Find a full list of our publications here
Zhong Y, De T, Alarcon C, Avitia J, Perera MA. Leveraging drug perturbation to reveal genetic regulation of hepatic gene expression in African Americans. AJHG, 5;110(1):58-70, 2023
Zhang H, Alarcon C, Cavallari LH, Nutescu E, Perera MA*, Hernandez W. Genome-wide Associating Study Identifies Copy Number Variants Associated with Warfarin Dose Response and Risk of Venous Thromboembolism in African Americans. Clinical Pharmacology and Therapeutics. 113(3):624-633, 2023
Thomas A, Fang MC, Kogan S, Hubbard CC, Friedman PF, Gong L, Klein TE, Nutescu EA, O’Brien TJ, Tuck M, Perera MA, Schwartz JB. Apixaban Concertation in Routine Clinical Care of Older Adults with Atrial Fibrillation. JACC: Advances. 1(2):10003, 2022
Adhikari S, Kwon J, Pacheco J, Jarvik G, Wei WQ, Mentch F, Hakonarson H, Sleiman P, Gordon A, Harley J, Linneman J, Hebbring S, Parisiadou L, Perera MA. Genetic association of primary nonresponse in Anti-TNF alpha therapy in patients with inflammatory bowel disease. Pharmacogenetics and Genomics, Jan 1:32(1) 1-9, 2022
Garofano K, Park CS, Alarcon C, Avitia J, Barbour A, Diemert D, Fraser CM, Friedman PN, Horvath A, Rashid K, Shaazuddin M, Sidahmed A, O'Brien TJ, Perera MA, Lee NH. Differences in the platelet mRNA landscape pretend racial Disparities in Platelet Function and Suggest Novel Therapeutic Targets. Clinical Pharmacology and Therapeutics. Sept;110(3):702-713, 2021
Singh A, Zhong Y, Nahlawi L, Park CS, De T, Alarcon A, Perera MA. Incorporation of DNA methylation into eQTL mapping in African Americans. PSB Proceedings 26: 244-255, 2021. Selected oral presentation in Symposium Pacific Symposium on Biocomputing. (PSB), (virtual) 2020.
Zhong Y, De T, Xu Y, Alarcon A, Park CS, Lec BM, Perera MA. Discovery of Novel Hepatocyte eQTLs in African Americans. PLOS Genetics, Apr 20;16(4), 2020
Zhong Y, Gamazon EG, Perera MA. On Using Local Ancestry to Characterize Genetic Control of Omic Phenotypes in Multiethnic or Admixed Populations. American Journal of Human Genetics Jun 6;104(6):1097-1115. 2019
Park CS, De T, Xu Y, Zhong Y, Smithberger E, Alarcon C, Gamazon ER, Perera MA. Hepatocyte gene express and DNA methylation as ancestry-dependent mechanisms in African Americans. npj Genomics Medicine. 4(29), 2019
De T, Hernandez W, Nwanze N, Smithberger E, O’Brien TJ, Tuck M, Duarte J, Bourgeois S, Perera MA. Association of Genetic Variants with Warfarin-associated Bleeding. JAMA, Oct 23;320(16):1670-1677, 2018.
Copyright 2015