Charles Rotimi
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Charles Nohuoma Rotimi (born 1957) is the Scientific Director of the
National Human Genome Research Institute The National Human Genome Research Institute (NHGRI) is an institute of the National Institutes of Health, located in Bethesda, Maryland. NHGRI began as the Office of Human Genome Research in The Office of the Director in 1988. This Office transi ...
(NHGRI). He joined the
National Institutes of Health The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research. It was founded in 1887 and is part of the United States Department of Health and Human Service ...
(NIH) in 2008 as the inaugural Director of the Trans-NIH Center for Research in
Genomics Genomics is an interdisciplinary field of molecular biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, ...
and
Global Health Global health is the health of populations in a worldwide context; it has been defined as "the area of study, research, and practice that places a priority on improving health and achieving equity in health for all people worldwide". Problems th ...
and was also the chief of the NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch. He works to ensure that
population genetics Population genetics is a subfield of genetics that deals with genetic differences within and among populations, and is a part of evolutionary biology. Studies in this branch of biology examine such phenomena as Adaptation (biology), adaptation, s ...
include genomes from African populations and founded the African Society of Human Genetics in 2003 and was elected its first president. Rotimi was instrumental in the launch of the
Human Heredity and Health in Africa Human Heredity and Health in Africa, or H3Africa, is an initiative to study the genomics and medical genetics of African people. Its goals are to build the continent's research infrastructure, train researchers and clinicians, and to study quest ...
(H3Africa) with the NIH and the
Wellcome Trust The Wellcome Trust is a charitable foundation focused on health research based in London, United Kingdom. It was established in 1936 with legacies from the pharmaceutical magnate Henry Wellcome (founder of Burroughs Wellcome, one of the predec ...
. He was elected to the
National Academy of Medicine The National Academy of Medicine (NAM), known as the Institute of Medicine (IoM) until 2015, is an American nonprofit, non-governmental organization. The National Academy of Medicine is a part of the National Academies of Sciences, Engineerin ...
in 2018.


Early life and education

Rotimi was born in
Benin City Benin City serves as the Capital city, capital and largest Metropolitan area, metropolitan centre of Edo State, situated in Nigeria, southern Nigeria. It ranks as the List of Nigerian cities by population, fourth-most populous city in Niger ...
,
Nigeria Nigeria, officially the Federal Republic of Nigeria, is a country in West Africa. It is situated between the Sahel to the north and the Gulf of Guinea in the Atlantic Ocean to the south. It covers an area of . With Demographics of Nigeria, ...
, and is the second oldest of six children. His mother had no education and his father was a high school English teacher. Rotimi studied at the University of Benin and graduated in 1979. He led the chemistry lab at a high school in
Benin Benin, officially the Republic of Benin, is a country in West Africa. It was formerly known as Dahomey. It is bordered by Togo to the west, Nigeria to the east, Burkina Faso to the north-west, and Niger to the north-east. The majority of its po ...
. He decided to attend graduate school abroad, and applied to universities in the
United Kingdom The United Kingdom of Great Britain and Northern Ireland, commonly known as the United Kingdom (UK) or Britain, is a country in Northwestern Europe, off the coast of European mainland, the continental mainland. It comprises England, Scotlan ...
and
United States The United States of America (USA), also known as the United States (U.S.) or America, is a country primarily located in North America. It is a federal republic of 50 U.S. state, states and a federal capital district, Washington, D.C. The 48 ...
. He was supported by his family to attend the
University of Mississippi The University of Mississippi (Epithet, byname Ole Miss) is a Public university, public research university in University, near Oxford, Mississippi, United States, with a University of Mississippi Medical Center, medical center in Jackson, Miss ...
, where he studied
health care administration Health administration, healthcare administration, healthcare management, health services management or hospital management is the field relating to leadership, management, and administration of public health systems, health care systems, hos ...
. He flew from
Nigeria Nigeria, officially the Federal Republic of Nigeria, is a country in West Africa. It is situated between the Sahel to the north and the Gulf of Guinea in the Atlantic Ocean to the south. It covers an area of . With Demographics of Nigeria, ...
to
Mississippi Mississippi ( ) is a U.S. state, state in the Southeastern United States, Southeastern and Deep South regions of the United States. It borders Tennessee to the north, Alabama to the east, the Gulf of Mexico to the south, Louisiana to the s ...
via
London London is the Capital city, capital and List of urban areas in the United Kingdom, largest city of both England and the United Kingdom, with a population of in . London metropolitan area, Its wider metropolitan area is the largest in Wester ...
, including catching a helicopter from
Gatwick Airport Gatwick Airport , also known as London Gatwick Airport (), is the Airports of London, secondary international airport serving London, West Sussex and Surrey. It is located near Crawley in West Sussex, south of Central London. In 2024, Gatwic ...
to
Heathrow Airport Heathrow Airport , also colloquially known as London Heathrow Airport and named ''London Airport'' until 1966, is the primary and largest international airport serving London, the capital and most populous city of England and the United Kingdo ...
. While studying at the
University of Mississippi The University of Mississippi (Epithet, byname Ole Miss) is a Public university, public research university in University, near Oxford, Mississippi, United States, with a University of Mississippi Medical Center, medical center in Jackson, Miss ...
, Rotimi met his wife Deatrice, who was from
Chicago Chicago is the List of municipalities in Illinois, most populous city in the U.S. state of Illinois and in the Midwestern United States. With a population of 2,746,388, as of the 2020 United States census, 2020 census, it is the List of Unite ...
. He graduated with a
master's degree A master's degree (from Latin ) is a postgraduate academic degree awarded by universities or colleges upon completion of a course of study demonstrating mastery or a high-order overview of a specific field of study or area of professional prac ...
in 1983. In 1985 he returned to
Nigeria Nigeria, officially the Federal Republic of Nigeria, is a country in West Africa. It is situated between the Sahel to the north and the Gulf of Guinea in the Atlantic Ocean to the south. It covers an area of . With Demographics of Nigeria, ...
and was appointed an administrator at a local health ministry. He returned to America to complete a program in
epidemiology Epidemiology is the study and analysis of the distribution (who, when, and where), patterns and Risk factor (epidemiology), determinants of health and disease conditions in a defined population, and application of this knowledge to prevent dise ...
at the
University of Alabama The University of Alabama (informally known as Alabama, UA, the Capstone, or Bama) is a Public university, public research university in Tuscaloosa, Alabama, United States. Established in 1820 and opened to students in 1831, the University of ...
, and was awarded a full scholarship to complete a doctorate. Rotimi completed his PhD and then spent a year as a postdoc at the
Loma Linda University Loma Linda University (LLU) is a private Seventh-day Adventist health sciences university in Loma Linda, California. , the university comprises eight schools and a Faculty of Graduate Studies. It is a part of the Seventh-day Adventist educatio ...
in
California California () is a U.S. state, state in the Western United States that lies on the West Coast of the United States, Pacific Coast. It borders Oregon to the north, Nevada and Arizona to the east, and shares Mexico–United States border, an ...
. Here he worked on
Alzheimer's disease Alzheimer's disease (AD) is a neurodegenerative disease and the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in remembering recent events. As the disease advances, symptoms can include problems wit ...
.


Research and career

Rotimi investigates genetics and
health disparities Health equity arises from access to the social determinants of health, specifically from wealth, power and prestige. Individuals who have consistently been deprived of these three determinants are significantly disadvantaged from health inequit ...
, ensuring that African genomes are represented in genome databases. He was appointed as an
epidemiologist Epidemiology is the study and analysis of the distribution (who, when, and where), patterns and determinants of health and disease conditions in a defined population, and application of this knowledge to prevent diseases. It is a cornerstone ...
at
Loyola University Chicago Loyola University Chicago (Loyola or LUC) is a Private university, private Society of Jesus, Jesuit research university in Chicago, Illinois, United States. Founded in 1870 by the Society of Jesus, Loyola is one of the largest Catholic Church, ...
, where he worked on
cardiovascular disease Cardiovascular disease (CVD) is any disease involving the heart or blood vessels. CVDs constitute a class of diseases that includes: coronary artery diseases (e.g. angina, heart attack), heart failure, hypertensive heart disease, rheumati ...
and
obesity Obesity is a medical condition, considered by multiple organizations to be a disease, in which excess Adipose tissue, body fat has accumulated to such an extent that it can potentially have negative effects on health. People are classifi ...
in people in the
African diaspora The African diaspora is the worldwide collection of communities descended from List of ethnic groups of Africa, people from Africa. The term most commonly refers to the descendants of the native West Africa, West and Central Africans who were ...
. Together with his colleague Richard Cooper, Rotimi recruited 10,000 people to study the prevalence of
hypertension Hypertension, also known as high blood pressure, is a Chronic condition, long-term Disease, medical condition in which the blood pressure in the artery, arteries is persistently elevated. High blood pressure usually does not cause symptoms i ...
in populations of West African descent. He found that hypertension and diabetes rates are significantly higher in African-American populations in
Chicago Chicago is the List of municipalities in Illinois, most populous city in the U.S. state of Illinois and in the Midwestern United States. With a population of 2,746,388, as of the 2020 United States census, 2020 census, it is the List of Unite ...
than they are in rural Africa. He attributed this to lifestyle factors, including weight, salt consumption and levels of physical activity. Rotimi moved to
Howard University Howard University is a private, historically black, federally chartered research university in Washington, D.C., United States. It is classified among "R1: Doctoral Universities – Very high research activity" and accredited by the Mid ...
in 1990, where he worked with Georgia M. Dunston at the National Human Genome Center. Rotimi was promoted to head of genetic
epidemiology Epidemiology is the study and analysis of the distribution (who, when, and where), patterns and Risk factor (epidemiology), determinants of health and disease conditions in a defined population, and application of this knowledge to prevent dise ...
. Here he studied the impact of the underrepresentation of African and African-American data in genomic datasets. He argued for the use of genomic tools to understand variation in human biology, but pointed out that it is not possible to use genetics to define race; the variation in genomes do not account for the socially defined racial groups and racial self-identity. He compiled genomic data from 6,000 people in 13 language families, identifying 21 global genetic ancestries. The study established that 97 % of people have mixed ancestry, emphasising the problems with labels such as
hispanic The term Hispanic () are people, Spanish culture, cultures, or countries related to Spain, the Spanish language, or broadly. In some contexts, Hispanic and Latino Americans, especially within the United States, "Hispanic" is used as an Ethnici ...
,
black Black is a color that results from the absence or complete absorption of visible light. It is an achromatic color, without chroma, like white and grey. It is often used symbolically or figuratively to represent darkness.Eva Heller, ''P ...
and
white White is the lightest color and is achromatic (having no chroma). It is the color of objects such as snow, chalk, and milk, and is the opposite of black. White objects fully (or almost fully) reflect and scatter all the visible wa ...
. In an interview with ''
The Lancet ''The Lancet'' is a weekly peer-reviewed general medical journal, founded in England in 1823. It is one of the world's highest-impact academic journals and also one of the oldest medical journals still in publication. The journal publishes ...
'', Rotimi described inequality as "one of the most outrageous aspects of society". Rotimi led the African component of the
International HapMap Project The International HapMap Project was an organization that aimed to develop a haplotype map (HapMap) of the human genome, to describe the common patterns of human genetic variation. HapMap is used to find genetic variants affecting health, disease ...
, which contributed to the
1000 Genomes Project The 1000 Genomes Project (1KGP), taken place from January 2008 to 2015, was an international research effort to establish the most detailed catalogue of human genetic variation at the time. Scientists planned to sequence the genomes of at least o ...
. He recruited three African communities in
Kenya Kenya, officially the Republic of Kenya, is a country located in East Africa. With an estimated population of more than 52.4 million as of mid-2024, Kenya is the 27th-most-populous country in the world and the 7th most populous in Africa. ...
and
Nigeria Nigeria, officially the Federal Republic of Nigeria, is a country in West Africa. It is situated between the Sahel to the north and the Gulf of Guinea in the Atlantic Ocean to the south. It covers an area of . With Demographics of Nigeria, ...
, ensuring that African genomes were part of the record. It is understood that
homo sapiens Humans (''Homo sapiens'') or modern humans are the most common and widespread species of primate, and the last surviving species of the genus ''Homo''. They are Hominidae, great apes characterized by their Prehistory of nakedness and clothing ...
originated in Africa, leaving after 100,000 years. During this time much of the genetic evolution had already occurred, and those that emigrated carried a subset of the original genetic diversity. African genomes are the most ancient. Rotimi looks at the
heritability Heritability is a statistic used in the fields of Animal husbandry, breeding and genetics that estimates the degree of ''variation'' in a phenotypic trait in a population that is due to genetic variation between individuals in that population. T ...
of complex disease. He began to work with
Kári Stefánsson Kári Stefánsson (born 6 April 1949) is an Icelandic neurologist and founder and CEO of Reykjavík-based biopharmaceutical company deCODE genetics. In Iceland he has pioneered the use of population-scale genetics to understand variation in the ...
in 2007, studying the diabetes risk variant
TCF7L2 Transcription factor 7-like 2 (T-cell specific, HMG-box), also known as TCF7L2 or TCF4, is a protein acting as a transcription factor that, in humans, is encoded by the ''TCF7L2'' gene. The TCF7L2 gene is located on chromosome 10q25.2–q25.3, co ...
in West African populations. He demonstrated that both
TCF7L2 Transcription factor 7-like 2 (T-cell specific, HMG-box), also known as TCF7L2 or TCF4, is a protein acting as a transcription factor that, in humans, is encoded by the ''TCF7L2'' gene. The TCF7L2 gene is located on chromosome 10q25.2–q25.3, co ...
and its genetic variant HapA increase the risk of diabetes due to their function in energy
metabolism Metabolism (, from ''metabolē'', "change") is the set of life-sustaining chemical reactions in organisms. The three main functions of metabolism are: the conversion of the energy in food to energy available to run cellular processes; the co ...
. To determine the origins of the
sickle cell disease Sickle cell disease (SCD), also simply called sickle cell, is a group of inherited Hemoglobinopathy, haemoglobin-related blood disorders. The most common type is known as sickle cell anemia. Sickle cell anemia results in an abnormality in the ...
mutation, Rotimi studied the genomes of 3,000 people. He identified that
sickle cell Sickle cell disease (SCD), also simply called sickle cell, is a group of inherited Hemoglobinopathy, haemoglobin-related blood disorders. The most common type is known as sickle cell anemia. Sickle cell anemia results in an abnormality in the ...
emerged around 7,000 years ago in
Africa Africa is the world's second-largest and second-most populous continent after Asia. At about 30.3 million km2 (11.7 million square miles) including adjacent islands, it covers 20% of Earth's land area and 6% of its total surfac ...
. Rotimi joined the
National Institutes of Health The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research. It was founded in 1887 and is part of the United States Department of Health and Human Service ...
in 2007, where he became founding director of the Trans-NIH Center for Research on Genomics and Global Health. He works with
Francis Collins Francis Sellers Collins (born April 14, 1950) is an American physician-scientist who discovered the genes associated with a number of diseases and led the Human Genome Project. He served as director of the National Institutes of Health (NIH) ...
on making genomic studies more inclusive. Rotimi founded the African Society of Human Genetics in 2003. He launched the Human Heredity and Health in Africa (H3Africa) initiative with the African Society of Human Genetics, a $70 million collaboration between the
National Institutes of Health The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research. It was founded in 1887 and is part of the United States Department of Health and Human Service ...
and
Wellcome Trust The Wellcome Trust is a charitable foundation focused on health research based in London, United Kingdom. It was established in 1936 with legacies from the pharmaceutical magnate Henry Wellcome (founder of Burroughs Wellcome, one of the predec ...
. He described the project as a "lifetime achievement".


Awards and honors

Rotimi was elected a member of the
National Academy of Medicine The National Academy of Medicine (NAM), known as the Institute of Medicine (IoM) until 2015, is an American nonprofit, non-governmental organization. The National Academy of Medicine is a part of the National Academies of Sciences, Engineerin ...
(NAM) in 2018. He serves on the editorial boards of ''
Public Health Genomics Public health genomics is the use of genomics information to benefit public health. This is visualized as more effective preventive care and disease treatments with better specificity, tailored to the genetic makeup of each patient. According to ...
'', ''
Genome Medicine ''Genome Medicine'' is a peer-reviewed open-access medical journal with a focus on medical genetics. It was established in 2009 as a companion journal to '' Genome Biology'' and is published continuously by BioMed Central. The editor-in-chief is R ...
'', ''
Clinical Genetics Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to m ...
'' and the ''Journal of Applied and Translational Genomics''. He was awarded the
Curt Stern Award The ASHG Scientific Achievement Award was established in 2001 and is presented annually by the American Society of Human Genetics (ASHG) for outstanding scientific achievements in human genetics that have occurred in the last 10 years. The award w ...
from the
American Society of Human Genetics The American Society of Human Genetics (ASHG), founded in 1948, is a professional membership organization for specialists in human genetics. As of 2009, the organization had approximately 8,000 members. The society's members include researchers, ...
in 2019 for his contributions to genetics in African and African-descent populations.


References


Notes

{{DEFAULTSORT:Rotimi, Charles 21st-century Nigerian scientists People from Benin City National Institutes of Health people University of Benin (Nigeria) alumni Fellows of the African Academy of Sciences Howard University faculty Loyola University Chicago faculty University of Mississippi alumni Members of the National Academy of Medicine 1957 births Nigerian emigrants to the United States Living people