The National Institutes of Health (NIH) is the premier biomedical-research institution in the world. Its mission is to seek fundamental knowledge about the nature and behavior of living systems and the application of that knowledge to enhance health, lengthen life, and reduce illness and disability. The NIH extends its mission globally through its global health initiatives, which aim to improve health and secure human lives.
The Human Genome Project (HGP), led by the National Human Genome Research Institute (NHGRI) at NIH, was the world's largest, government sponsored, collaborative, biological project that led to the development of a reference sequence for the human genome. This effort benefitted both medical research and the practice of medicine worldwide, as it provided new insights into the genetic contributions to disease.
Many scientists and consortia are now working on collecting data on variations in human genes and their association with disease (e.g. Human Variome Project, UNESCO, ClinVar, ExAC etc.). It is anticipated that these efforts will help find new, improved and cost-effective approaches for the diagnosis, treatment and prevention of disease, thereby reducing the burden of disease and disability, and alleviating the economic stress attributed by these conditions on the world's most vulnerable populations.
This Summit is a 5-year initiative (2016-2020) designed to help developing nations build and expand their knowledge base, infrastructure, systems, research efforts and technologies in human genetics and genomics. Increasing their access to these resources will help them build capacity in these areas and will help resource-poor countries address their public health challenges in genetic diseases. This will ultimately help build healthier nations worldwide.
Genetic disorders, both monogenic and polygenic, contribute significantly to the world's burden of disease and disability. As infant mortalities decline from more common causes, genetic diseases and congenital birth defects disproportionately add to the public health burden. Genetic and congenital birth defects impose tremendous personal and economic hardships on the families of those suffering from genetic diseases and are a significant drain on the economies of low and middle-income nations.
Advances in human genetics and genomic research now make it possible to prevent, diagnose and treat hundreds of inherited diseases and congenital birth defects, alleviating the burden these diseases have on individuals, their families and their nations. In addition, a growing number of strategies help manage these unanticipated conditions, providing for a better quality of life, while lessening the burden on local and national economies.
Unfortunately, many countries do not have researchers and healthcare professionals trained in Medical Genetics and Genomic Medicine, available to address this burden. This results in unaddressed needs of the patients and their families, and an increase in the societal and economic burden. Compounding this burden is the fact that many of these countries lack training in genomic research and medicine in their graduate and medical school curricula, and thus will be unable to address this deficit in the foreseeable future. As a consequence, critical opportunities that can reduce the burden of disease and disability in these nations, are missed.
In addition to providing an informed cadre of researchers and healthcare professionals within these nations, the program aims to encourage collaborations and networking capabilities between and within the participating nations. Such collaborations will establish a world-wide network of professionals that will provide healthcare services and pursue cutting edge research.
The significance of this program is to communicate advances in genomic science to the global community; to identify and fill the knowledge gap in genetics and genomics and their related technologies, in developing nations; and to promote genomic research and medicine, through international cooperation and collaboration.
The program is designed and will strive to accomplish the following goals:
The curriculum will be in English and at the graduate school level (Master's degree and beyond) for healthcare professionals (Researchers, Physicians, Dentists, Nurses, Counselors, Graduate and Medical School trainees) from developing nations. It is re-constructed annually to meet the goals and will include the following:
Maximilian Muenke, M.D.
Manjit Kaur, M.S., M.B.A.
Francis Collins, M.D., PH.D., Director, National INstitutes of Health (NIH)
Eric Green, M.D., Ph.D., Director, National Human Genome Research Institute (NHGRI)
Dan Kastner, M.D., Ph.D., Scientific Director, NHGRI
William Gahl, M.D., Ph.D., Clinical Director NHGRI and Office of the Clinical Director, Head, Undiagnosed Disease Program and Human Biochemical Genetics Program, NHGRI
Maximilian Muenke, M.D., Chief & Senior Investigator, Medical Genetics Branch Head, Human Development Section Director, Medical Genetics & Genomic Medical Training Program, NHGRI
Eliseo J. Pérez-Stable, M.D., Director, National Institute on Minority Health and Health Disparities (NIMHD)
Katy Meilleur, Ph.D., C.R.N.P.
Ben Solomon, M.D., Managing Director, GeneDx
Jason Porter, Ph. D., Sr. Research Advisor, Center for Development Research, U.S. Global Development Lab, US Agency for International Development
The program is intended to train healthcare professionals and trainees from developing nations that are in their early-mid careers. The curriculum is designed in English for healthcare professionals with an advanced understanding of the biological sciences. Hence, research scientists (Ph.D.), physicians (M.B.B.S./M.D.), dentists (D.D.S./D.M.D.), dentist-scientists, nurses (M.S./Ph.D.), counselors (M.S./Ph.D.) and medical, dental and graduate school trainees can apply. Selected candidates will be fully sponsored (travel, local transportation in the United States, lodging and per diem) for the duration of the summit (Aug 28th - Sept. 28th, 2019). Participants will share lodging quarters with another participant (same sex) to reduce costs. Attendance on all days and of all events is required. Self-sponsorship may be possible, provided seats are available.
In order to measure the success of this program, candidates will be required to participate in:
Interested and qualified candidates must apply on official letterhead and signatures, with:
We are no longer accepting applications for the 2019 Summit. Only the selected candidates will be informed by April/May 2019.
For the Summit in 2020, please check our web page in Oct./Nov. 2019.
Please check this web page frequently for updates.
The International Summit in Human Genetics and Genomics (2019) is sponsored by the National Human Genome Research Institute (NHGRI) and other Institutes and Centers at NIH (NCATS, NCI, NEI, NIA, NIAID, NIDA, NICHD, NIDCD, NIDCR, NIMHD, NINDS, NINR, FIC), and by the generous contributions to the Foundation for the NIH [fnih.org].
Last Updated: October 9, 2018