Center for Research on Genomics and Global Health (CRGGH) Blog

A New Look at the Origin of the Sickle Allele

Thu, 15 Mar 2018 00:00:00 EST

CRGGH researchers Daniel Shriner and Charles Rotimi have used whole genome sequence data to investigate the origin of the mutation that causes sickling of red blood cells, which reduces their ability to carry oxygen and can have lethal consequences in individuals that have two copies of the mutation. Five haplotypes containing this mutation have been defined (Arabian/Indian, Benin, Cameroon, Central African Republic/Bantu, and Senegal), each representing what has been thought to be an independent occurrence of the mutation. These haplotypes have been associated with different degrees of clinical severity. In addition, there are several haplotypes that do not correspond to the five ethno-linguistic groups or geographic regions and are referred to as atypical.

Upcoming CDC-NIH Webinar on Precision Medicine and Health Disparities

Thu, 14 Sep 2017 00:00:00 EST

The rise in Precision Medicine has uncertain implications for population health disparities. On October 11, 2017 from 3:00-4:00 PM (EDT), the Director of the Center for Research on Genomics and Global Health, Dr. Charles Rotimi, will join Dr. Wylie Burke, Professor of the Department of Bioethics and Humanities at the University of Washington, for a webinar to discuss "Precision Medicine and Health Disparities: The Promise and Perils of Emerging Technologies." This webinar has been collaboratively sponsored by groups at the National Institutes of Health and the Centers for Disease Control and Prevention. More details and free registration available here.

President Gurib-Fakim of Mauritius Supports H3Africa Initiative

Fri, 6 Jan 2017 00:00:00 EST

In October, African scientists and collaborators gathered in Pointe aux Piments in Mauritius for the 9th Human Health and Heredity in Africa (H3Africa) Consortium Meeting. Attendees were honored to host the President of Mauritius, Dr. Ameenah Gurib-Fakim (front row, third from right), at this meeting. Dr. Gurib-Fakim delivered the opening address for the meeting, highlighting the significance of this initiative in supporting African youth, encouraging them to remain on the continent to contribute their expertise.

H3Africa Consortium Array Will Bring Leading-Edge Genomics Tool to Address African Genomic Diversity

Mon, 14 Nov 2016 00:00:00 EST

In a major advance for those engaged in genomic research in African ancestry populations, Illumina will be developing a GWAS array based on data from the Human Heredity and Health in Africa Initiative (H3Africa). This array will include novel content based on sampling of individuals from populations across Africa. This tool promises to address a key limitation of current research efforts in terms of trying to interrogate the genomes of African ancestry individuals with tools that were not designed to sufficiently capture the genomic diversity of these individuals. This extraordinary effort has been driven by the H3Africa Genome Analysis Working Group, of which CRGGH�s Deputy Director, Adebowale Adeyemo, serves as co-chair.

More information about this achievement is available through Illumina and Quartz Africa.

The African Diaspora: History, Adaptation and Health

Wed, 21 Sep 2016 00:00:00 EST

Center for Research on Genomics and Global Health (CRGGH) researchers have recently published an article in Current Opinion in Genetics and Development on the how genomics is illuminating the history and health of Africans and African diaspora populations.

CRGGH joins new Branch of the NHGRI Intramural Research Program; Dr. Rotimi named Branch Chief

Thu, 19 Mar 2015 00:00:00 EST

Over the past year, the Intramural Research Program of the National Human Genome Research Institute (NHGRI) has been reorganized. As part of this reorganization, the CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). As described by NHGRI Scientific Director, Dan Kastner, this reorganization was conducted, in part, to facilitate new "scientific synergies."

Charles Rotimi receives SAMRC Gold Medal Scientific Achievement Award

Thu, 30 Oct 2014 00:00:00 EST

On October 30, 2014, the South African Medical Research Council (SAMRC) presented Charles Rotimi, Ph.D., director of NHGRI's Center for Research on Genomics and Global Health, with the organization's Gold Medal Scientific Achievement Award. One of South Africa's most prestigious awards, the SAMRC Gold Medal recognizes senior researchers who have made seminal scientific contributions that have impacted the health of people, especially those living in developing countries.

The council honored Dr. Rotimi as an outstanding African scientist who has contributed to raising the profile of science internationally. He leads efforts at NHGRI to develop genetic epidemiology models and population genetics research that explores the patterns and determinants of common complex diseases in the African diaspora and other human populations.

CRGGH Research Fellow receives 2014 NHGRI Intramural Research Award

Thu, 18 Dec 2014 00:00:00 EST

Fasil Tekola Ayele, Ph.D., was recently selected as a recipient of an Intramural Research Award by the National Human Genome Research Institute (NHGRI) Division of Intramural Research. This award was given in recognition of Dr. Tekola's scientific accomplishments since joining NHGRI in 2010 and his potential for future success.

In Focus: CRGGH Trainee Ephrem Mekonnen Gebeyehu

Tue, 23 Dec 2014 00:00:00 EST

Ephrem Mekonnen Gebeyehu, a graduate student at Addis Ababa University in Ethiopia, has been training with the Center for Research on Genomics and Global Health (CRGGH) since the summer of 2014. The following spotlight reveals his scientific promise, as he concludes his National Institutes of Health training experience.

Mr. Gebeyehu's academic career was shaped by political and personal upheaval. His father, who was a teacher, an intellectual, and a state security officer, was assassinated during Ethiopia's almost two-decade civil war that ended in 1991. To honor his father's valor, the government offered him and his siblings scholarships to study in any of the former Eastern-Bloc countries. Given the state of unrest in Ethiopia, Mr. Gebeyehu forfeited his placement at Addis Ababa University to pursue this study abroad.

Publication Alert: The African Genome Variation Project shapes medical genetics in Africa

Wed, 3 Dec 2014 00:00:00 EST

An international team that includes researchers from the National Institutes of Health has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa. The region is the most genetically diverse in the world, yet few studies have looked into genomic risk factors for disease in Africa.

The study provides clues to medical conditions in people of sub-Saharan African ancestry, and indicates that the migration from Africa in the early days of the human race was followed by a migration back into the continent.

Resources added to the 2012 CRGGH publications

Thu, 30 Aug 2012 11:30:16 EST

Several publications previously posted on the 2012 CRGGH Publications Page have been updated with additional "resources".

CRGGH former trainee highlighted in NHGRI news

Thu, 12 Apr 2012 10:53:59 EST

Former postbaccalaureate trainee, Keolu Fox, was recently showcased in the National Human Genome Research Institute (NHGRI) news from the Office of the Director. Mr. Fox was an intramural research training award fellow at the CRGGH before moving on to the PhD program in the Department of Genome Sciences at the University of Washington.

CRGGH Working Group member, Dr. Gary H. Gibbons, named as director of National Heart, Lung, and Blood Institute.

Thu, 5 Apr 2012 10:52:20 EST

Dr. Gibbons is currently at the Morehouse School of Medicince where he serves as the director of the Cardiovascular Research Institute and professor of physiology and medicine. Dr. Gibbons is no stranger to the NIH having served most recently on the advisory council for the National Heart, Lung, and Blood Institute. He also currently serves as a Working Group member of the CRGGH.

Publication Alert: HLA Class II Locus and Susceptibility to Podoconiosis

Wed, 28 Mar 2012 22:45:44 EST

Published in the New England Journal of Medicine, CRGGH postdoctoral fellow, Fasil Tekola Ayele, Ph.D., along with CRGGH Deputy Director and Director, shed light on the genetic basis of endemic nonfilarial elephantiasis, otherwise known as podoconiosis or "mossy foot". This international collaborative research project is the first study of a non-communicable disease using genome-wide association for any African population.

UNC-CRGGH host historic meeting on "The Genetics of the Peoples of Africa and the Transatlantic African Diaspora" in Chapel Hill, NC

Mon, 26 Mar 2012 12:33:32 EST

The CRGGH was honored to co-host this important event with Dr. Fatimah Jackson, Professor in the Department of Anthropology at the University of North Carolina (held on March 19-20, 2012). The conference sought to inform our understanding of health disparities observed among African-descended peoples by exploring the genetic and cultural diversity of the. Towards this goal, the conference program highlighted research from leading and world-renown scientists spanning the fields of genomics, epigenetics, biotechnology, ethics, linguistics, paleontology and anthropology.

Dr. Rotimi to present at Science/AAAS Webinar "The Hunt for Missing Heritability: Challenges and Opportunities for Novel Locus Discovery in Non-European Populations"

Mon, 23 Jan 2012 15:04:42 EST

On Tuesday, January 31, 2012 at 12:00 PM EST/9:00 AM PST, CRGGH Director Dr. Charles Rotimi will speak during a webinar hosted by Science Magazine and the American Association for the Advancement of Science and sponsored by Affymetrix. The Webinar will be co-presented by Carlos Bustamante, PhD from Stanford University School of Medicine.

CROSS-POST: African researchers weigh in on ethics of genomic research on African continent

Wed, 14 Dec 2011 14:35:22 EST

As mentioned in a recent post of the NHGRI News Features from the Office of the Director, Dr. Rotimi (CRGGH Director) participated in the Ethics and Genomics Research in Africa (EAGER-Africa) in Abuja, Nigeria from November 28 to 29, 2011.

CRGGH Director participates in Genetics of Diseases and Human Populations course in Santiago, Chile

Wed, 2 Nov 2011 21:03:04 EST

Dr. Charles Rotimi, CRGGH Director, was invited to guest lecture at a theoretical and practical course organized by the University of Chile in Santiago, Chile. Attendees to the Genetics of Diseases and Human Populations course included students from South and Central America as well as the Caribbean.

CRGGH to present several research projects at the ASHG/ICHG 2011 international meeting

Fri, 7 Oct 2011 14:53:54 EST

CRGGH researchers will have another strong showing at this year's American Society of Human Genetics (ASHG) annual meeting, which is jointly held with the International Congress of Human Genetics (ICHG). This will be the 61st meeting of ASHG and the 12th ICHG meeting to be held in Montreal, Canada. Our research team is represented in eleven abstracts as first authors or collaborators. Check out the links below:

CRGGH highlighted in Nature article "Genomics for the world."

Tue, 19 Jul 2011 11:45:38 EST

Carlos Bustamante, Ph.D. (a member of the CRGGH International Working Group) recently published an article in the journal Nature where he and others describe the need for genomic advances to extend to all corners of the globe. In order for this to occur, the authors contend that "other ethnic groups must be studied to ensure that more people benefit" from genomics.

CRGGH continues its support of H3Africa in Cape Town, South Africa

Fri, 15 Apr 2011 15:53:34 EST

The recently launched Human Heredity and Health in Africa (H3Africa) initiative, a partnership between the National Institutes of Health, Wellcome Trust and the African Society of Human Genetics (AfSHG) has energized the African genomics community. With the participation of our Center Director, Charles Rotimi; Deputy Director, Adebowale Adeyemo, Program Assistant, Shirley Freeman, and me (Emmanuel Peprah, Research Fellow) the CRGGH provided considerable leadership in the implementation of the initial phase of the H3Africa project.

Publication Alert: Investigating population stratification and admixture using eigenanalysis of dense genotypes

Wed, 6 Apr 2011 16:17:11 EST

The CRGGH is interested in defining population structure using genome-wide genotype data. Several techniques to define population structure have been developed over the past decade. Defining population structure in mixtures of ancestrally homogeneous populations is easier than defining population structure in admixed populations. A fundamental challenge is determining how many dimensions of the data should be retained. In an Advance Online Publication of Heredity, I have revisited an algorithm first described in the psychometrics literature in 1976 and found that it outperforms the current standard.

Publication Alert: A genome-wide association study of serum uric acid in African Americans

Mon, 4 Apr 2011 10:13:44 EST

The CRGGH conducts numerous Genome-Wide Association Studies on phenotypes and traits associated with chronic diseases in individuals throughout the globe. In a recent publication of BMC Medical Genomics (4 February 2011, 4:17; doi:10.1186/1755-8794-4-17), I am the lead author on a collaborative study investigating the genome of a population of African Americans for association with serum uric acid levels. We identify an association between serum uric acid and variants of the gene Solute Carrier Family 2 Member 9 (SLC2A9). The abstract and a link to the article are noted below:

A unified framework for multi-locus association analysis of both common and rare variants

Thu, 24 Mar 2011 13:57:01 EST

With the completion of the first wave of genome-wide association studies that focused on the contribution of common variants to disease susceptibility, researchers are now turning their attention to rare variants. Methods for grouping and analyzing rare variants are under development by many groups around the world. The CRGGH has contributed to this area of research by developing a unified framework for an arbitrary number of common and rare variants. In collaboration with my colleague Dr. Laura Kelly Vaughan, University of Alabama at Birmingham, we developed the framework based on the ideas of logic regression, in which sets of predictors are formed on the basis of classical logical operations. They illustrate use of the method by reanalyzing publicly available data on Parkinson disease.

Podoconiosis listed as a neglected tropical disease by WHO

Fri, 4 Feb 2011 12:16:31 EST

The World Health Organization has listed endemic non-filarial elephantiasis known as podoconiosis as a neglected tropical disease. Podoconiosis, also known as "mossy foot", is a debilitating condition that affects the feet and legs of those exposed to soil with a specific geochemical makeup. Understanding the genetic contributions to this disease is one of the major research projects headed by the CRGGH.

New updates and additions to the CRGGH website!

Mon, 29 Nov 2010 12:15:18 EST

Check out the newly updated CRGGH website. Since its inception in mid-year 2008, the CRGGH has grown both in staff and in research projects. We have recently updated the corresponding web pages to provide up-to-date information and have rolled out two new sections

Publication Alert: Variants of the Adenosine A(2A) Receptor Gene Are Protective against Proliferative Diabetic Retinopathy in Patients with Type 1 Diabetes.

Mon, 22 Nov 2010 13:53:50 EST

The CRGGH focuses on a number diabetes related phenotypes and traits, including diabetes complications. In an advance publication of Ophthalmic Research (2010 November 19;46(1):1-8), Dr. Bashira A. Charles is the lead author on a collaborative study involving proliferative diabetic retinopathy.

CRGGH will have a strong showing at this year's ASHG meeting

Mon, 1 Nov 2010 12:30:25 EST

The 60th Annual Meeting of the American Society of Human Genetics (ASHG) will be held in Washington, D.C. from Tuesday, November 2 through Saturday, November 6, 2010. The ASHG Annual Meeting is a premier meeting where the latest and greatest concerning genetics is presented through platform and invited sessions, poster sessions, exhibits and much more. The CRGGH is excited to have many of its staff and trainees present at this year's conference.

Report from the International Genetic Epidemiology Society meeting in Boston, MA

Mon, 25 Oct 2010 12:07:08 EST

On October 10-12, 2010, the 19^th Annual Meeting of the International Genetic Epidemiology Society was held in Boston, Massachusetts. The Scientific Theme was statistical methods for analysis of rare variants and next-generation sequence data.

CRGGH Director reviews ancestry and disease in the latest issue of New England Journal of Medicine

Tue, 12 Oct 2010 10:36:57 EST

Dr. Charles Rotimi, CRGGH Director and Lynn Jorde, Ph.D. contribute to the New England Journal of Medicine's continuing series on Genomic Medicine with a review of "Ancestry and Disease in the Age of Genomic Medicine".

Presentation and panel discussion at the Gordon Research Conference on Science & Technology Policy

Fri, 13 Aug 2010 11:12:56 EST

In the wonderful setting of Waterville Valley, New Hampshire I had the great pleasure of putting the "Science Policy Analyst" part of my title to use at this year's Gordon Research Conference series dedicated to Science and Technology Policy.

Dr. Rotimi gives keynote at an NIDDK workshop at the National Medical Association Annual Meeting.

Mon, 2 Aug 2010 13:12:14 EST

As part of the 60th anniversary celebrations of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), the National Medical Association (NMA) held a special workshop honoring the accomplishments of the NIDDK. Dr. Rotimi, CRGGH Director, was invited to give the keynote address for the event.

Recap of the Summer Institute in Statistical Genetics

Wed, 28 Jul 2010 11:43:13 EST

This summer I attended the 15th Summer Institute in Statistical Genetics (SISG) at the University of Washington. SISG was in session from June 14-July 2, 2010. It provided a crash course in topics such as Probability and Statistical Inference, Computing for Statistical Genetics, Gene Expression Profiling , MCMC for Genetics, Coalescent Theory, Advanced QTL Mapping, GWAS Data Cleaning.

ISHIB 2010 Conference on "Cardiovascular Disease Disparities in the Genomic Era: Innovative Approaches to Risk Assessment and Treatment"

Tue, 6 Jul 2010 10:41:59 EST

The International Society on Hypertension in Blacks (ISHIB) along with the American Society of Hypertension (ASH) are cosponsoring this 3-day scientific program co-chaired by Dr. Charles Rotimi (CRGGH Director) and Dr. Angela Brown (Washington University in St. Louis School of Medicine). The conference will be held in the Washington, DC area on July 9-11, 2010.

NIH and Wellcome Trust Announce Partnership to Support Population-based Genome Studies in Africa

Tue, 22 Jun 2010 10:08:30 EST

It has been no secret to the CRGGH that population-based genome studies in Africa are important not only to the field of human genetic variation and genomics but to the continent of Africa as a whole. Today, the NIH and the Wellcome Trust take significant steps towards solidifying a relationship aimed at supporting such studies across multiple populations in Africa. Dr. Rotimi, Director of the CRGGH along with Drs. Collins (NIH Director) and Green (NHGRI Director) are in London, England today to launch this partnership with Wellcome Trust, represented by Sir Mark Walport (Wellcome Trust Director).

1000 Genomes Project Releases Data from Pilot Projects on Path to Providing Database for 2,500 Human Genomes

Mon, 21 Jun 2010 10:50:19 EST

The 1000 Genomes Project, an international public-private consortium to build the most detailed map of human genetic variation to date, announces the completion of the goals of the initial pilot projects. The 1000 Genomes Project has been underway since 2008 with three pilot projects to test multiple strategies of cataloging genetic variation in the different populations chosen for the study.

Dr. Adebowale Adeyemo appointed Deputy Director of CRGGH

Fri, 11 Jun 2010 16:38:14 EST

Dr. Adebowale Adeyemo, Staff Scientist at the CRGGH, has been appointed Deputy Director of the Center. In this new position, Dr. Adeyemo will assist the CRGGH Director, Dr. Charles Rotimi, in his leadership of the Center. The central mission of the CRGGH, a trans-NIH intramural initiative, is to advance research into the role of genetics, genomics, lifestyle and culture in disease etiology, differential susceptibility to disease and variable drug response at the individual and population levels. Dr. Adeyemo came to the CRGGH as one of the founding members of the new Center and since then, has continued his research in genetic epidemiology, designed new studies, led major data analysis efforts, mentored research fellows and trainees, and participated in multiple national and international research consortia.

Communicating human genetic variation

Wed, 26 May 2010 11:59:45 EST

As the singular (currently) poster of the official CRGGH blog it is slightly awkward to highlight my own work but this was a collaborative effort with colleagues presently (and formerly) of the the Social and Behavioral Research Branch within the NHGRI. Mr. Vence Bonham, the senior author, is well known for his contributions on the ethics and social implication of genetics research. The Human difference in the genomic era: Facilitating a socially responsible dialogue was written during my time in SBRB.

CRGGH postdoctoral trainee presents at National Institutes of Health's tribute to Dr. Kirschstein

Mon, 17 May 2010 13:32:41 EST

Bashira Charles, Ph.D. is a current CRGGH postdoc and has directly benefited from a National Research Service Award (NRSA). Dr. Charles will be presenting her work titled "Genetic Epidemiology of Uric Acid in African-Americans" at the NIH day-long symposium "A Tribute to Ruth L. Kirschstein, M.D.: Inspiring the Best in Others".

CRGGH Director to give Featured Talk at the 2010 Human Genome Meeting in Montpellier, France.

Fri, 14 May 2010 12:22:58 EST

The 2010 Human Genome Meeting will be held in Montpellier, France May 18 to May 21 with the theme of "Next Generation Genomics and Medicine". Dr. Rotimi will be among the distinguished experts presenting at this year's conference. His featured talk is titled "Genetic diversity and health: Opportunities and challenges presented by African genomes".

Publication alert: "Relationships Among Obesity, Inflammation, and Insulin Resistance in African Americans and West Africans"

Mon, 5 Oct 2009 12:46:15 EST

The CRGGH focuses on a number of diseases but maintains a significant focus on projects aimed at diabetes, obesity, and hypertension. In an advance online publication in the journal Obesity, Dr. Ayo Doumatey was the lead author on the study titled: "Relationships Among Obesity, Inflammation,and Insulin Resistance in African Americans and West Africans." Dr. Doumatey et al observe significant associations between obesity and insulin resistance and inflammation, for example.

The importance of informed consent in developing countries.

Fri, 31 Jul 2009 14:03:12 EST

Fasil Tekola, M.P.H., our pre-doctoral trainee (see the July 2nd post), published last week in PLoS Neglected Tropical Diseases an important qualitative study focused on the process of informed consent in developing countries (available here). This study was part of a larger project, which aims to determine the genetic basis of susceptibility to podoconiosis using a validated clinical staging system for the disease and, of course, an appropriately designed consent process. This work highlights an important component of research carried out here at the CRGGH. Mr. Tekola's work is also recently highlighted in Wellcome Trust's July 31st edition of Science Policy and Related News (SPIN).

Genetic variants linked to hypertension and blood pressure in African Americans

Thu, 23 Jul 2009 10:42:20 EST

CRGGH researchers and collaborators led by our center's Scientific Director, Dr. Adeyemo, published last week findings from a genome-wide association study of hypertension and blood pressure in African Americans. This study, to our knowledge, is the first of its kind despite African Americans disproportionately affected by hypertension. Six authors on the study are CRGGH members that contributed to this important research that could ultimately translate to new and better treatment options in African Americans and other populations globally.

CRGGH Welcomes New and Returning Trainees!

Thu, 2 Jul 2009 10:37:07 EST

In furthering our commitment to trainees (see #5--http://crggh.nih.gov/mission.cfm), we welcome Fasil Tekola (photo on the right), a returning pre-doctoral student (Mr. Tekola is a trainee at the CRGGH in six-month intervals) and Keolu Fox (photo on the left), a summer intern. Mr. Tekola comes to us from Ethiopia by way of the UK and Mr. Fox comes to us from the University of Maryland. We're excited to have these two promising young scientists and we look forward to a productive summer and beyond. Check out their bios below to get to know them a little better.

Commentary in BMC Medical Genomics

Thu, 11 Jun 2009 14:01:05 EST

Center Director, Dr. Rotimi and I have published a commentary in BMC Medical Genomics, which discusses the role genetics and genomics can play in the context of health disparities. Titled “The A’s, G’s, C’s, and T’s of Health Disparities”, Dr. Rotimi and I illustrate the utility of genetics research in providing necessary and critical information to diseases and treatments. We also discuss the tremendous impact social factors and environmental forces can have in influencing health disparity diseases. One of the major points of the commentary was that “individuals cannot be treated as a representative for all those who physically resemble them or who share in some of their ancestry”.

CRGGH Publication Alert!

Thu, 28 May 2009 12:52:28 EST

CRGGH Scientific Director, Dr. Adeyemo, and Center Director, Dr. Rotimi, report on the utility of investigating human genetic variation in populations of Non-European origin in an advanced publication of Public Health Genomics titled "Genetic Variants Associated with Complex Human Diseases Show Wide Variation across Multiple Populations", Drs. Adeyemo and Rotimi describe how the inclusion of multiple global populations will only enhance the understanding of disease distribution across ethnic groups.

Welcome to CRGGH Blog!

Mon, 30 Mar 2009 09:23:00 EST

The CRGGH would like to welcome you to an exciting feature of our Web site. The CRGGH Blog will have regular postings on relevant news and events such as conferences, new research projects and other announcements. In addition, we will also be providing a forum for commentary and perspectives on issues relating to the mission and research currently being carried out at the center.

The goal of the blog is to promote discussion and dialogue between the scientific and public community on topics ranging from interpretation of genome-wide association studies to the inclusion of diverse ethnic populations in research initiatives, to addressing the need for recruitment and retention of underrepresented minorities in the biomedical science. As our first point of discussion, we welcome suggestions from the outside community on issues they would like to discuss. We will be posting our first blog topic within the month and we look forward to everyone's comments and discussion.