lunes, 20 de junio de 2016

An International Summit in Human Genetics and Genomics

An International Summit in Human Genetics and Genomics

NIH - National Human Genome Research Institute - Advancing Human Health Through Genomics Research

An International Summit in Human Genetics and Genomics

September 1st-30th, 2016
Globe, DNA helix and healthcare professionalsThe 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. Its mission extends globally and many of the Institutes and Centers (IC) at NIH are involved in several global health initiatives.
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 helped sequence the human genome. This effort benefitted the world, as it provided new insights into the genetic contribution 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). These efforts will help find new, improved and cost-effective approaches for genetic diseases, which take a toll on the economies of developing nations and affects some of the 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 and technologies in genetics and genomics, in order to help them understand the prevalence and basis of genetic diseases in their nations, and to help them address their public health challenges. This will result in helping them to improve their economies and in building healthier nations worldwide.


Genetic disorders, both monogenic and polygenic, contribute significantly to the world's burden of disease. It is widely recognized that many countries do not have genetically trained researchers and healthcare professionals available to address this burden. Furthermore, many such countries lack training in genomic research and medicine in their graduate and medical school curricula, and thus will be unable to correct this deficit in the foreseeable future. As a consequence, critical opportunities that can reduce the burden of disease in these nations, through the use of comprehensive information obtained from research and clinics that can help health care providers and patients make informed decisions, implement proven preventive strategies for a growing number of inherited diseases and disorders, and provide effective management of children born with birth defects, are frequently missed.
As infant mortality declines, genetic diseases and congenital birth defects increasingly add to the public health burden. Genetic and congenital birth defects impose tremendous economic hardships on the families of the afflicted individuals and are a 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 many genetic 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.
Besides improving the capacity of native researchers and professionals in innovating and managing in the realm of genetics and genomics, the program aims to encourage collaborations and networking capabilities between groups and individuals of the participating nations.
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:
  • Encourage and strengthen cooperation and collaboration in genetic and genomic research and medicine, among nations in the Global North and South.
  • Expand the knowledge base in genetics and genomics, among researchers and young health-professionals, in developing nations.
  • Bridge the knowledge gap in genetics and genomics, in developing nations, through efficient and effective knowledge transfer, so as to reduce the time lag for inclusion of genetics and genomics in research and clinical practice.
  • Integrate accurate genetic and genomic information, and its related technologies in clinical practice, for the diagnosis, treatment and management of diseases, through the sharing of information across platforms.
  • Introduce the concept of newborn screening in developing nations for the early detection of genetic disorders.
  • Introduce the concept of personalized/precision medicine in developing nations for the treatment of diseases.
  • Provide an understanding to developing nations of the ethical, legal and social implications (ELSI) of genetic information.
  • Help developing nations build capacity in genomic research and medicine.
  • Strengthen the health care system in developing nations for the provision, delivery and management of safe genetic services (CLIA-like concepts).
  • Provide tools to researchers and professionals, to increase public and political awareness of the role of genetics and genomics, in healthcare.
  • Reduce health disparities and the burden of disease and disability, on people and the economies of developing nations.

The Curriculum

The curriculum will be in English and at the graduate school level (Masters degree and beyond) for healthcare professionals (Researchers, Physicians, Dentists, Nurses, Counselors, Graduate and Medical School trainees) from developing nations. It is constructed to meet the goals and will include the following:
  • Two weeks of general courses in genetics and genomics, for all attendees.
  • Followed by two weeks of a tailored training, based on the background and goals of the candidates, and the needs of their country, where identified.
  • Laboratory training in state-of-the-art laboratories such as GeneDx, Quest Diagnostics, Kennedy Krieger Institute, University of Maryland and Maryland Public Health Dept., in cytogenetics, molecular genetics, biochemical genetics, clinical bioinformatics and newborn screening.
  • In-depth training at world-renowned research facilities and hospitals, such as NIH, Johns Hopkins University Hospital, INOVA Hospital, Kennedy Krieger Institute, University of Maryland, Children's National Health System and MedStar Washington Hospital Center.
  • Introduction to technologies such as next-gen sequencing, exome sequencing, gene panels, MRIs, sonograms etc., for their role in research and prevention, diagnosis and treatment of genetic disease; data collection, analysis, interpretation and submission.
  • The role of genetic and genomic counseling, and support groups in managing inherited diseases.
  • Usefulness of telecommunications and long-distance learning modules, in research and medicine, in remote areas with limited facilities.
  • Lectures in ethical, legal and social implications of genomic information.
  • Introduction to precision medicine and the importance of newborn screening.
  • Provide candidates with numerous opportunities for a one-on-one interaction with experts in the field to foster collaborations (research and/or clinical) and to address other concerns related to the field.
  • Provide a networking platform that will facilitate communication, partnerships and collaborations, between research groups and professionals involved in the summit.
  • Interaction with members of the United Nations and others agencies to learn about the ways and means of successfully sustaining programs in genetics and genomics, in developing nations, and strategies for their inclusion and implementation as a nation-wide program.

Program Coordinators

Maximilian Muenke, M.D. 
Program Director
Manjit Kaur, M.S., M.B.A.
Program Specialist

Confirmed Speakers Among Others

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
Adebowale Adeyemo, M.D.
Ann Cashion, Ph.D., R.N.
Brian Brooks, M.D., Ph.D.

Sherri Bale, Ph.D.
Robert Lipinski, Ph.D.

Eligibility and Application

The program is intended to train health care professionals and trainees from developing nations that that are in their early-mid career stage. 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: same sex, 2 persons/room, per diem), for the duration of the summit (Sept. 1st-30th, 2016).
In order to measure the success of this program, candidates will be expected to (mandatory) participate in:
  • A pre- and post-test to each day's curriculum.
  • A survey at the end of the summit.
  • An intermediate report (1-2 years, as determined) on their professional development and career choices and advancements in genomics.
  • Follow-up reports every year to measure their ability to successfully integrate their learning in research and practice, by:
  • The number of collaborations established and publications.
  • Systems established to record, track and monitor the occurrence and re-occurrence of congenital birth defects and genetic diseases.
  • Number of cases identified, diagnosed and treated.
  • Number of cases referred for counseling and for medical management of the condition.
  • Improvement in the quality of life of affected individuals and their families.
  • The multiplier effect resulting from their return to to their countries to build capacity (train others, set up research/clinical facilities, introduce genomics in the curriculum etc.) and strengthen their curricula, research and healthcare systems.
We are no longer accepting applications for Sept. 2016. Only selected candidates will be informed by the first week of July.  We will resume accepting applications in April 2017.


The International Summit in Human Genetics and Genomics is sponsored by the National Human Genome Research Institute (NHGRI) and other Institutes and Centers (IC): (NIDCD, NIDCR, NEI, NHLBI, NIMHD, NINR and FIC) at NIH; the Foundation for the National Institutes of Health (FNIH); and profit and non-profit partners.

No hay comentarios:

Publicar un comentario