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- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
Research Training
This program offers training in a combined program of maternal-fetal medicine and medical genetics.
… The Metropolitan D.C. Medical Genetics Program also offers new subspecialty training in a … combined programs provides a unique training opportunity for understanding the genetic etiologies seen in prenatally … both as a consultant to obstetricians and gynecologists for women with complicated pregnancies and as a basic science …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National … their findings in the September 2017 issue of the American Journal of Medical Genetics . … While Noonan … separately, as opposed to evaluating everyone together. For example, when they looked at Africans or Asians …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… Genetics and genomics both play roles in health and disease. … effects. Genes (units of heredity) carry the instructions for making proteins, which direct the activities of cells and … and diabetes. See: Leading Causes of Death [cdc.gov]). All human beings are 99.9 percent identical in their genetic …
Policy Issues
In 2008, the Genetic Information Nondiscrimination Act was passed into law, prohibiting discrimination by employers and health insurers.
… Many Americans wonder if participating in genetics research or undergoing genetic testing will lead to … based on their genetics. These questions may be the basis for why or why not patients decide to take genetics-based … Service, Department of Labor, and Department of Health and Human Services (HHS). GINA amends HIPAA to clarify that …
Educational Resources
Newborn genetic screening is testing performed on newborn babies to detect a wide variety of disorders.
… old. In the United States, newborn screening is mandatory for a defined set of genetic diseases, although the exact set … to state. Newborn screening tests focus on conditions for which early diagnosis is important to treating or …
News Release
Researchers and clinicians are sequencing human genomes faster than ever, so considering the societal implications of genomic data is even crucial.
… program director, all in NHGRI's Division of Genomics and Society; and Cristina Kapustij, M.S., Sonya Jooma, M.A., and … our ancestry to the promise of precision medicine for all individuals and populations.The Ethical, Legal and … and widespread, and an area of active research. See the American Academy of Pediatrics take on this matter here: …
Research Funding
Building upon a foundation of quantitative genetics laid over a century ago, applying modern genomic approaches to resolve how genetic and non-genetic factors shape variation in human diseases and traits.
… A major goal of human genetics is to decompose the sources of trait variation into … and application of genetic findings, especially for the most complex human traits. Fortunately, the growing …
Media Advisory
The NIH-funded Integrative Human Microbiome Project presented at the International Human Microbiome Congress.
… the National Institutes of Health (NIH)-funded Integrative Human Microbiome Project (iHMP), which is coordinated by the … While some cause disease, the vast majority are important for health or are harmless. Titled Future Directions for Human Microbiome Research in Health and Disease , the …
Jobs at NHGRI
Postdoctoral positions are available in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH.
… in the laboratory of Dr. Daphne W. Bell, within the Cancer Genetics and Comparative Genomics Branch of the National Human Genome Research Institute, at NIH. … The Bell … campus and offers a wide array of training opportunities for scientists early in their careers . The NIH is dedicated …