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- Ethical, Legal and Social Implications (ELSI) Research Program6
- 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 Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… are the DNA instructions you inherit from your mother and your father. … Genetic tests may be used to identify … individuals Identify gene changes that may increase the risk to develop a disease Identify gene changes that could be … of these tests provide you with information about your risk of developing a specific disease. Such information may …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… Health (NIH) has awarded 16 four-year grants to academic and medical centers nationwide to begin the second phase of the Undiagnosed Diseases Network (UDN). The total investment planned for the UDN over … UDN takes advantage of cutting edge technologies such as genomic sequencing, metabolomics and assessing patient …
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… genome sequencing effort to comprehensively identify rare risk and protective variants contributing to multiple common … designs to better understand the general principles of genomic architecture underlying common, complex inherited …
News Release
In a large-scale study of people from diverse ancestries, researchers narrowed down the number of genomic variants that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein cholesterol levels, a major risk factor for heart disease.
… ancestral groups substantially improves identification of genomic variants associated with blood lipid levels. … In a … that are strongly associated with blood lipid levels and generated a polygenic risk score to predict elevated low-density lipoprotein …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… that DNA sequencing now allows us to test for specific genomic variants in an unborn baby using a small sample of a … mother's blood? Pregnancy can be a stressful time, and for many years prenatal genetic testing has required invasive procedures with associated risk. New DNA sequencing technologies have now truly …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… computational approaches for searching among millions of genomic variants to find those that make a difference in … or in other traits. The awards are for three years each and total approximately $13 million, pending the availability … genomic regions containing variants that affect disease risk. Although GWAS may find hundreds of variants that appear …
News Release
Researchers recommend more rigorous clinical study of dietary management practices for patients with IEMs, which may result in reformulating some medical foods.
… patients with rare inborn errors of metabolism (IEMs), and can help prevent serious and life-threatening … is a need for more rigorous clinical study of dietary management practices for patients with IEMs, including any … implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about …
Professional Development Programs
The National Institutes of Health (NIH) seeks qualified physicians, physician assistants, nurse practitioners and genetic counselors interested in acquiring credentials and experience to lead genomic medicine research and implementation programs at the NIH, major medical centers and other organizations.
… The ACMG/NIH Genomic Program Management Fellowship has been a deeply … to learn about grants management, collaboration and leadership. An immersive experience in various settings, … ( ClinGen ), the Electronic Medical Records and Genomics ( eMERGE ) Network, the Implementing Genomics in Practice ( …
Event
NHGRI meeting focused on research that rapidly advances best practices for the implementation of genomic sequence data into clinical care.
… Genome Research Institute (NHGRI) sponsored the meeting eMERGE & CSER: The Convergence of Genomics and Medicine at the Bethesda Hyatt in Bethesda, Maryland, on … to develop best practices for the implementation of genomic sequence data into clinical care, as well as research …
Genomics 101
Find out how the rapidly emerging field of genomics is transforming our understanding of human health and enabling advances that benefit all of humankind.
… to the way your body responds to diseases, medications, and aging. Find out how the rapidly emerging field of … and partnerships help spark scientific curiosity, improve genomic literacy, and foster engagement among learners in … in English and Spanish to help you dive in and learn key genomic concepts. Search for any genomic term to learn more. …