Charles Rotimi (1957– )

Charles Rotimi is a researcher who studies the etiology of complex diseases and health disparities and advocates for the inclusion of greater racial and ethnic diversity in genomic repositories. In the early 2000s, Rotimi spearheaded the recruiting of African communities for participation in the International HapMap Project. As director of the Center for Research on Genomics and Global Health, or CRGGH, at the National Institutes of Health, or NIH, Rotimi led governmental research on human genetic variation and patterns of disease. Rotimi is a founding member of the Human Heredity and Health in Africa, or H3Africa, initiative, which aims to increase the representation of African populations in global genetic studies. Through his epidemiological research, leadership in advocacy groups for the support of African scientists, and his collaboration in genomic diversity initiatives, Rotimi promotes racial and ethnic representation in genetic research, especially regarding the inclusion of African people and the African diaspora.

1. Early Life and Education
2. Professional Career
3. Advocacy Efforts
4. Legacy and Impact

Early Life and Education

Rotimi was born in 1957 in Benin City, Nigeria, as the second eldest of six children to Alfred and Mary Rotimi. His father was a high school teacher. His mother had no formal education but managed her own wholesale business where she supplied goods, such as candy, sugar, and milk to local stores. From an early age, Rotimi demonstrated an interest in laboratory research and excelled in his mathematics and biology courses. In 1975, Rotimi began studying at the University of Benin in Benin City for his undergraduate degree in biochemistry. In 1978, during his final year at the university, Rotimi conducted an experiment that tested for the presence of aflatoxin, a toxic compound produced by certain molds, in poorly stored Nigerian foods and alcoholic beverages. Since the 1960s, researchers have linked aflatoxin to liver cancer, and the toxin disproportionately affects low-income areas where refrigeration is less accessible. In his project, Rotimi identified factors that contribute to fungal growth. He later stated that the broader goal of that research was to inform food storage recommendations and prevent cases of aflatoxin poisoning. When reflecting on the project, Rotimi asserted that the work marked the impetus of his passion for health disparities research.

After receiving his undergraduate degree, Rotimi began working as the head of a chemistry lab at a high school in Benin City but soon decided to leave Nigeria and pursue a graduate degree abroad. Rotimi began a healthcare administration degree at the University of Mississippi in Oxford, Mississippi, in January 1982. In hindsight, Rotimi stated that his decision to attend the University of Mississippi was crucial in informing his understanding of the relationship between race and health disparities in the United States. At that time, Rotimi also met his future wife, Deatrice, who educated him on American history and the long-term impact of racially motivated governmental policy on public health.

In 1983, Rotimi completed his master’s degree and, in 1985, flew back to Benin City, where he worked as an administrator at a local health ministry. However, after realizing his desire to work as a researcher outside of Nigeria, Rotimi applied and was accepted to the University of Alabama School of Public Health in Birmingham, Alabama, where he completed a second master’s degree and a doctorate degree in epidemiology. For his doctoral thesis, Rotimi studied the prevalence of lung cancer among workers at an iron foundry and two engine manufacturing plants. Rotimi found that there were no significant differences in the prevalence of lung cancer between the workers and the general public. Once he completed his PhD in 1991, Rotimi started his postdoctoral fellowship at Loma Linda University in Loma Linda, California, as a researcher of Alzheimer’s disease. Rotimi maintained that position for a year before prematurely ending his fellowship for an epidemiology assistant professor position at Loyola University in Chicago, Illinois, where he studied cardiovascular diseases in people of African descent.

Professional Career

As a researcher at Loyola University, Rotimi collaborated with Richard Cooper, the chair of the Department of Public Health Sciences, in a study that examined the prevalence of hypertension, or high blood pressure, among seven populations of West African origin. Rotimi and Cooper enrolled 10,014 people in the study, which consisted of those living in Nigeria, Cameroon, three islands in the Caribbean, and Chicago. All participants reported West African ancestry. Published in 1997, the project identified significant differences in the rates of hypertension and diabetes based on geographical location, although all participants shared a common genetic ancestry. The African American population in Chicago exhibited the highest prevalence of those diseases, followed by urban centers in the Caribbean and then by rural areas in Africa, which displayed the lowest prevalence. The paper infers that lifestyle factors, such as weight, sodium consumption, and levels of physical activity, have an effect on disease risk. Rotimi also received funding from the NIH to study the familial aggregation of cardiovascular diseases and diabetes among 1,420 African people spanning 232 family lines from the Chicago area. The project marked a novel exploration of familial patterns of disease. Nearly all of the prior evidence had come from White population samples. Published in 1994, the study found that coronary heart disease, hypertension, stroke, and diabetes presented in certain African American families but not others, which suggests the presence of a genetic basis for the diseases.

In 1999, after seven years at Loyola University, Rotimi partnered with geneticist Georgia Dunston to establish the National Human Genome Center at Howard University in Washington, D.C. There, Rotimi served as the center’s director of genetic epidemiology, where he studied the medical disparities the exclusion of African-American and African populations in genomic datasets created. His 2004 perspective article, “Are Medical and Nonmedical Uses of Large-Scale Genomic Markers Conflating Genetics and ‘Race’?”, published in the journal Nature Genetics argues that drug developers and healthcare providers must consider genetic variation when understanding diseases across different populations. In another 2004 article, titled “Conceptualizing Human Variation” and published in Nature Genetics, Rotimi explores the concept of race and its relationship to biological data. He emphasizes that race, as it is defined in US demographic units, does not accurately capture the breadth of global human diversity. Rotimi argues that more research is necessary to partition environmental and genetic variation when studying disease across populations.

In the early 2000s, Rotimi joined the International HapMap Project, a spin-off of the Human Genome Project, or HGP, which sought to map the common patterns of sequence variation in the human genome. Rotimi recruited three African communities in Kenya and Nigeria to contribute their genetic material, which he stated was the first major effort to engage African communities in efforts to map the human genome. Rotimi also recalled that the International HapMap Project was his first fully committed engagement activity and his introduction to communicating the importance of genomic research participation to underrepresented communities. Rotimi asserted that the inclusion of African genomes in the International HapMap Project was crucial in appreciating the scope of human variation because African populations have the highest genetic diversity in the world.

In 2008, Rotimi became the founding director of the NIH’s Center for Research on Genomics and Global Health, collaborating with Francis Collins, then director of the National Human Genome Research Institute, or NHGRI, to improve inclusivity within genomic studies. Rotimi’s lab creates genetic epidemiology models and performs epidemiological studies to investigate the functioning of common complex diseases, with a focus on populations of the African Diaspora. A 2017 analysis from his lab compiled the genomic data from nearly 6,000 people from thirty language families to determine twenty-one different global genetic ancestries. The study identified the presence of substantial ancestral heterogeneity across the global population, as 97.3 percent of the people involved in the analysis possessed mixed ancestry. Rotimi’s lab has participated in the development of international genomic resources, including the International HapMap Project, the 1000 Genome Project, and the African Genome Variation Project.

Advocacy Efforts

In 2003, Rotimi began serving as the first president of the African Society of Human Genetics, or AfSHG, a professional organization that fosters genetics research in Africa for the purpose of disease prevention and the improvement of health outcomes. Its inaugural conference took place in Accra, Ghana. Rotimi and fellow academics Clement Adebamowo and Adebowale Adeyemo wrote a grant to support AfSHG. In 2009, Rotimi successfully led AfSHG in the establishment of H3Africa as a collaboration with the NIH and the Wellcome Trust, a charitable foundation that supports scientific research. H3Africa has provided more than $180 million in funding toward developing infrastructure to support African-led genomic research, including building state-of-the-art laboratories and funding scholarships for the education of future scientists. Through these investments, H3Africa has created a pan-African network of laboratories for more than 500 African scientists, facilitating the enrollment of more than 60,000 research participants to participate in a bioinformatics network and three regional biorepositories. Rotimi served as the president of the AfSHG until 2014.

Legacy and Impact

For the past 40 years of Rotimi’s still-ongoing career, he has researched the role of genetic variation in disease susceptibility and health disparities. As of 2025, he has been involved with the production of more than 420 publications with over 29,000 citations, primarily in the fields of genetics and medicine. As an African immigrant himself, Rotimi has launched initiatives, such as H3Africa, to support African scientists in the field of genetic research and expand the number of epidemiological studies focused on the African continent. His research and advocacy efforts have highlighted the importance of diversity in biomedical research and argued for the inclusion of underrepresented groups in the development of precision medicine. Rotimi has been serving as a council member of the Human Genome Organization since 2013, a member of the Executive and Scientific Committee for the International Federation of Human Genetics Societies since 2008, and as a board member of the Human Genetics Scientific Advisory Board since 2012. In 2014, Rotimi became the chief of the Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch, or MCIDGB, of the NIH and held the position until 2021. Rotimi was elected to he National Academy of Medicine in 2018, and, in early October 2021, he became the scientific director of the NHGRI.

As of 2025, Rotimi serves as the director of the CRGGH and the scientific director of the NHGRI. In his free time, he enjoys sports such as tennis, football, and basketball, as well as spending time with his three sons and one daughter. 

Sources

1. African Society of Human Genetics. “About AfSHG.” African Society of Human Genetics. https://www.afshg.org/about/ (Accessed May 28, 2025). 
2. African Society of Human Genetics. “Human Heredity and Health in Africa (H3Africa).” African Society of Human Genetics. https://www.afshg.org/h3africa/ (Accessed March 7, 2025).
3. Austin, Harland, Elizabeth Delzell, Cathy Lally, Charles Rotimi, and Kent Oestenstad. “A Case-Control Study of Lung Cancer at a Foundry and Two Engine Plants.” American Journal of Industrial Medicine 31 (1997): 414–21.
4. Azvolinsky, Anna. “Genome Collector: A Profile of Charles Rotimi.” The Scientist Magazine. The Scientist, September 30, 2018. https://www.the-scientist.com/charles-rotimi-works-to-ensure-genetic-epidemiology-and-population-genetics-studies-include-dna-from-africannot-just-europeanpopulations--64818 (Accessed May 28, 2025).
5. Baker, Jennifer L., Charles N. Rotimi, and Daniel Shriner. “Human Ancestry Correlates with Language and Reveals That Race Is Not an Objective Genomic Classifier.” Scientific Reports 7 (2017). https://pmc.ncbi.nlm.nih.gov/articles/pmid/28484253/ (Accessed May 28, 2025). 
6. Butler, W. H. “Investigation of Aflatoxin Poisoning.” Food and Cosmetics Toxicology 1 (1963): 335.
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8. Collins, Francis S., Jennifer A. Doudna, Eric S. Lander, and Charles N. Rotimi. “Human Molecular Genetics and Genomics - Important Advances and Exciting Possibilities.” New England Journal of Medicine 384 (2021): 1–4. https://www.nejm.org/doi/full/10.1056/NEJMp2030694 (Accessed May 28, 2025). 
9. Cooper, R., C. Rotimi, S. Ataman, D. McGee, B. Osotimehin, S. Kadiri, W. Muna, S. Kingue, H. Fraser, T. Forrester, F. Bennett, and R. Wilks. “The Prevalence of Hypertension in Seven Populations of West African Origin.” American Journal of Public Health 87 (1997): 160–8. https://pmc.ncbi.nlm.nih.gov/articles/pmid/9103091/ (Accessed May 28, 2025). 
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11. Intramural Research Program. “Charles Rotimi, Ph.D.” National Institutes of Health https://irp.nih.gov/pi/charles-rotimi (Accessed March 7, 2025).
12. Intramural Research Program. “IRP’s Charles Rotimi Elected to American Academy of Arts and Sciences.” National Institutes of Health. https://irp.nih.gov/blog/post/2021/06/irps-charles-rotimi-elected-to-american-academy-of-arts-and-sciences (Accessed March 7, 2025).
13. Keita, S. O. Y., R. A. Kittles, C. D. M. Royal, G. E. Bonney, P. Furbert-Harris, G. M. Dunston, and C. N. Rotimi. “Conceptualizing Human Variation.” Nature Genetics 36 (2004): S17–20. https://d1wqtxts1xzle7.cloudfront.net/50034904/Conceptualizing_human_variation20161101-6664-azfvkz-libre.pdf?1478020428=&response-content-disposition=inline%3B+filename%3DConceptualizing_human_variation.pdf&Expires=1744096651&Signature=Y0BjFIqus~oGwoMD3yhSE-gR9LmmCqpq~KHc04ieJbUknZjoIm06KkwVDLPnaHoQr6JvzRRsSflofiv2Ofq~CG1kjeexOX7Zr01Cw94a8QI8r1cfIBMR940MFzmxhBO3U53WlqLfKUHRdvqXeBS6q5mP6OCx2gqiby8x6Dki1ncRaArPxItRbDtci3~QiSSvzO5DvrpwNffo-EWzMZEUz7nR76xH2DxCB-xde1fyWGnwGnVka16DyUUO5Dqw6sk0-uOsak-T7E1amNW41l9bxGaST-vtRtmvdGNFIwPEeAgndkD2lRAxOoilosw8Uoku9UGJjomC8moQq0Y9XL3W9A__&Key-Pair-Id=APKAJLOHF5GGSLRBV4ZA (Accessed May 28, 2025). 
14. Morris, Kelly. “Charles Rotimi: Engaging Africa in Human Genomic Research.” The Lancet 376 (2010): 1383. https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(10)61943-5/fulltext?rss%3Dyes= (Accessed May 28, 2025). 
15. National Human Genome Research Institute. “A Conversation With the 4 NHGRI Scientific Directors.” National Institutes of Health. https://www.genome.gov/history/conversation-with-4-scientific-directors (Accessed May 28, 2025). 
16. National Human Genome Research Institute. “Charles N. Rotimi, Ph.D.” National Institutes of Health. https://www.genome.gov/staff/Charles-N-Rotimi-PhD (Accessed March 7, 2025).
17. National Human Genome Research Institute. “Dr. Charles Rotimi Awarded Academy Medal for Distinguished Contributions in Biomedical Science.” National Institutes of Health. https://www.genome.gov/news/news-release/dr-charles-rotimi-awarded-academy-medal-for-distinguished-contributions-in-biomedical-science (Accessed May 28, 2025). 
18. Rotimi, Charles, R. Cooper, G. Cao, C. Sundarum, and D. McGee. “Familial Aggregation of Cardiovascular Diseases in African‐American Pedigrees.” Genetic Epidemiology 11 (1994): 397–407.
19. Rotimi, Charles N. “Are Medical and Nonmedical Uses of Large-Scale Genomic Markers Conflating Genetics and ‘Race’?.” Nature Genetics 36 (2004): S43–7. https://www.researchgate.net/profile/Charles-Rotimi/publication/8209212_Are_medical_and_nonmedical_uses_of_large-scale_genomic_makers_conflating_genetics_and_race/links/09e4150969f8396796000000/Are-medical-and-nonmedical-uses-of-large-scale-genomic-makers-conflating-genetics-and-race.pdf (Accessed May 28, 2025). 
20. Rotimi, Charles N. “Inauguration of the African Society of Human Genetics.” Nature Genetics 36 (2004): 544. https://www.nature.com/articles/ng0604-544.pdf (Accessed May 28, 2025). 
21. Rotimi, Charles. “Curriculum Vitae.” National Institutes of Health. https://www.genome.gov/sites/default/files/media/files/2019-04/Rotimi_CV_Dec2014.pdf (Accessed March 7, 2025).
22. Rotimi, Charles. “Distinguished Colloquium Speaker.” Indiana University. Posted May 2, 2022. https://iu.mediaspace.kaltura.com/media/t/1_7cbz3lmq/243224402 (Accessed May 28, 2025). 
23. Wellcome. “Who We Are.” Wellcome. https://wellcome.org/who-we-are (Accessed March 7, 2025).