Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch

Charles N. Rotimi, Ph.D.

Charles Rotimi
Chief & Senior Investigator
Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch

Center for Research on Genomics and Global Health

B.S. University of Benin, Nigeria, 1979
M.S. University of Mississippi, 1983
M.P.H. University of Alabama at Birmingham, 1988
Ph.D. University of Alabama at Birmingham, 1991

phone (301) 451-2303
fax (301) 480-2634
Building 12A, Room 4047
12 SOUTH DR, MSC 5635
BETHESDA, MD 20892-5635

Selected Publications

Center for Research on Genomics and Global Health (CRGGH)

The Hunt for Missing Heritability: Challenges and Opportunities for Novel
Locus Discovery in Non-European Populations

YouTube videoPress Briefing on Human Heredity and Health in Africa (H3Africa)

Dr. Rotimi is the Director of the Center for Research on Genomics and Global Health (CRGGH) [], whose mission is to advance research into the role of culture, lifestyle, genetics and genomics in health disparities. Dr. Rotimi develops genetic epidemiology models and conducts population genetics research that explores the patterns and determinants of common complex diseases in the African diaspora and other human populations.

A key focus of Dr. Rotimi's research is understanding the triangular relationship between obesity, hypertension, and diabetes, which together account for more than 80% of the health disparity between African Americans and European Americans. Genetic epidemiology models developed by his group are helping to address whether high disease rates are the result of exposure to environmental risk factors, genetic susceptibility, or an interaction between the two.

Dr. Rotimi has been extensively involved in a number of genetic epidemiology projects that are being conducted in several African countries and in the United States. These projects have included the Africa America Diabetes Mellitus (AADM) study, the Howard University Family Study, the Genetics of Obesity in Blacks Study, and the Engagement of African Communities for the International HapMap Project.

Begun in 1998, the AADM study draws upon the expertise of an international group under Dr. Rotimi's leadership that is exploring how genes and lifestyle factors interact to increase diabetes risk or resistance. Study participants have included more than 4,000 West Africans either with diabetes or as part of a control group, with the goal of identifying diabetes susceptibility genes in populations whose ancestors gave rise to most African Americans. In collaboration with colleagues at deCODE Genetics in Iceland, Dr. Rotimi's group recently identified three genes — TCF7L2, CDKAL1, and TCF2 (HNF1β ) — that likely play important roles in diabetes risk.

Dr. Rotimi's group is engaged in the first genome-wide scan of an African American cohort, with the goal of identifying genes associated with obesity, hypertension, diabetes, and metabolic syndrome. More than 2,000 participants from multigenerational African American families are enrolled in this large-scale genetic epidemiology study. In collaboration with investigators at the Coriell Institute for Biomedical Research, this research will explore how the genome-wide association study (GWAS) approach can inform complex disease mapping in a genetically admixed population such as African Americans.

Dr. Rotimi's group is also participating in the Black Women's Health Study, a national longitudinal study begun in 1995 to determine the underlying cause of selected illnesses in black women. It includes 59,000 women aged 21 to 69 at the time of enrollment. Over 25,000 DNA samples have been processed to date, and the data derived from these samples are being used in a number of scientific investigations, including those examining the genetic bases of cancer, diabetes and lupus.

Since much of his research activities are focused on vulnerable populations, Dr. Rotimi is collaborating with investigators at Case Western Reserve University and the University of Ibadan in Nigeria to study issues related to informed consent in genetics studies. These efforts are investigating whether subjects in genetics studies perceive their participation as voluntary, and whether consented individuals understand the purpose of the genetic studies in which they are participating.

Dr. Rotimi's scientific approach takes broader societal context into account, recognizing both the independence required for good scholarly investigation and researchers' responsibility not to alienate individuals from the scientific process. His group gives particular thought to ways in which scientists document and describe the non-random pattern of human genetic variation and its link to disease risks in different populations. By engaging in constructive conversation on these issues, Dr. Rotimi has positioned his group to untangle the complexities of genetic variation within the context of health disparities and group identity.

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Last Reviewed: November 15, 2012