The Genomics Landscape
About Dr. Green
Genomics in Africa
By Eric D. Green, M.D., Ph.D.
Director, National Human Genome Research Institute
March 3, 2015
Featured in last month's The Genomics Landscape was the recently announced Precision Medicine Initiative. On February 11 and 12, the first strategic workshop for this initiative was held on the NIH campus. Experts from a diverse set of fields came together to discuss building a large U.S. research cohort. (See: www.nih.gov/precisionmedicine/workshop.htm)
In some ways, this was symbolically the first exciting step of many for the Precision Medicine Initiative journey. The videoarchive of the meeting is now available and can be viewed at:
Day 1: Building a Large U.S. Cohort for Precision Medicine Research
Day 2: Building a Large U.S. Cohort for Precision Medicine Research
In this month's The Genomics Landscape, I discuss the importance of supporting genomics research in Africa and describe NHGRI's involvement in some relevant research programs. See various details below, along with other information items that I hope will be of interest to you.
Specifically, March's The Genomics Landscape features stories about:
- Genomics in Africa
- Request for Information: National Library of Medicine
- eMERGE Publications Highlight Large-Scale Genomics Research
- ASHG-NHGRI Genetics & Public Policy and Genetics & Education Fellowships
- Recruiting a New Chief, Communications and Public Liaison Branch
All the best,
Genomics in Africa
Roughly 100,000 years ago, humans migrated out of Africa and started to populate the globe. Although the human species is now associated with significant phenotypic variation, all humans have a genetic origin in Africa. The genomes of people currently living in Africa are more varied than those of people living anywhere else on Earth. Studying the genomes of Africans thus offers important opportunities to characterize and understand genomic variation. Despite this, Africans are largely underrepresented as both research participants and scientists in genetics and genomics.
To fully capture the genetic and genomic legacy of humanity, it is essential to include representatives of African populations in studies of human genomic variation. It is also critical that the benefits of genomic advances be felt throughout the world by patients, health professionals, researchers and scientists. Accordingly, NHGRI aims both to increase the use of African populations in genomic studies and to stimulate genomics research in Africa. This is being accomplished in multiple ways, a few of which are highlighted below.
Building on the success of the HapMap Project, the aim of the 1000 Genomes Project is to discover and catalog human genomic variants across the world's populations and to support studies relating those variants to health and disease. As a centerpiece of this effort, researchers have now sequenced the genomes of thousands of people in Africa, Europe, East Asia, South Asia and the Americas. This project represents a collaboration involving researchers from the United States, the United Kingdom, China and Germany.
Recently, Dr. Charles Rotimi of the NHGRI Intramural Research Program and his colleagues in the African Genome Variation Project published the first comprehensive characterization of genomic diversity across sub-Saharan Africa. This study, which used data generated by the HapMap and 1000 Genomes Projects, uncovered evidence of how environmental forces (e.g., climate and exposure to infectious agents) have shaped the genomes of Africans and influenced susceptibility to conditions such as malaria, Lassa fever and trypanosomiasis.
The Human Heredity and Health in Africa (H3Africa) Initiative is jointly funded by the National Institutes of Health (NIH) (through the NIH Common Fund) and the U.K. Wellcome Trust. NHGRI plays a major leadership role in the program, which aims to use genomics to study the genetic and environmental determinants of disease in Africa. H3Africa supports studies led by African scientists that use genomic, clinical and epidemiologic methods to identify hereditary and environmental contributions to the risk of common, non-communicable disorders (such as heart and kidney disease), as well as communicable diseases (such as tuberculosis).
An important goal of H3Africa is to increase direct funding available to African scientists, so as to foster genomics research on the continent. This is being accomplished through numerous research projects, collaborative centers, and studies focusing on relevant ethical, legal and societal issues. The development of suitable infrastructure is also essential for establishing a sustainable genomics research base in Africa. H3Africa is funding grants for the collection and banking of research specimens through biorepository research projects, as well as grants for the development of computing capabilities through the H3ABionet. With the increase in available biorepository space within Africa, it is hoped that biosamples will be stored and catalogued properly to increase the availability of appropriate materials for large-scale genomics research.
I am excited to see what the future holds as African scientists and citizens become more engaged in genomics research. For more information about H3Africa, see www,genome.gov/27542964. For more information about the African Genome Variation Project publication, see www.genome.gov/27559699. Of further interest, two articles on the state of science funding in Africa were recently published in The Scientist: see "Funding Research in Africa" by Paula Park and "Opinion: 'On Funding Research in Africa'" by Francis Collins and Jeremy Farrar.
More from the Genomics Landscape
Request for Information: National Library of Medicine
The National Library of Medicine (NLM) has been at the forefront of how biomedical data and health information are collected, shared, and analyzed since its founding in 1836. NLM's National Center for Biotechnology Information, GenBank, and numerous other data resources are vitally important to the field of genomics - and, therefore, of great interest to NHGRI.
After serving as NLM Director for over thirty years, Dr. Don Lindberg will be retiring at the end of March. Prior to launching a search for a new NLM Director, NIH is seeking input from stakeholders and the general public to inform the development of a renewed vision for the NLM. Please see the official RFI Guide Notice at grants.nih.gov/grants/guide/notice-files/NOT-OD-15-067.html for more details on the information being sought and the means by which to submit comments. The deadline for responses is March 13.
eMERGE Publications Highlight Large-Scale Genomics Research
An important goal of NHGRI is to support research that tackles issues related to using genomic information to care for patients. The Electronic Medical Records and Genomics (eMERGE) Network, now in its eighth year, aims to integrate genomic information into electronic medical records (EMRs) to improve genetic risk assessment, disease prevention, diagnosis, and treatment. Recently, members of eMERGE published a series of nearly 20 papers in Frontiers in Genetics highlighting their impressive accomplishments to date. Some of the papers explore research methods or offer reviews, while others report new findings. For more information, see www.genome.gov/27560569.
ASHG-NHGRI Genetics & Public Policy and Genetics & Education Fellowships
NHGRI and the American Society of Human Genetics (ASHG) are now accepting applications for the 2015 Genetics & Public Policy Fellowship and the 2015 Genetics & Education Fellowship. The Genetics & Public Policy Fellowship is designed to be a bridge for genetics professionals wishing to transition to a policy career. The Genetics & Education Fellowship is designed for genetics professionals with an advanced degree who are early in their careers and interested in developing their expertise in genomic literacy efforts, science education policy, and program development. NHGRI and ASHG are accepting applications for both fellowships until April 24, 2015.
NIH News of Interest
Genome Advance of the Month
Future Opportunities for ENCODE and Beyond - March 10-11, 2015
New Genomics Videos
National Advisory Council for Human Genome Research - February 9, 2015
NIH Requests for Feedback
Past editions of The Genomics Landscape can be accessed at Director's Page Archive
Last Updated: March 3, 2015
Posted: August 4, 2008