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- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program6
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… Genomic Medicine Working Group  (GMWG) compiles a list of interesting advances and helpful educational resources in … about the selection criteria and categories, see the list of categories and their definitions . … Related Resources … … Implementation Of Genomics, Pharmacogenomics, Oncology Sequencing, Disease-based Findings … The NHGRI Genomic …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… and their association with lifespan in Iceland Impact of digitally enhanced genetic results disclosure in diverse … tool for all ancestries Broader access to clinical genome sequencing benefits diverse individuals with rare … noninvasive prenatal genetic screening may be feasible and cost-effective for Mendelian disorders When lack of insurance …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
… about the selection criteria and categories, see the list of categories and their definitions . … Related Resources … … Genomic Medicine Working Group  (GMWG) compiles a list of interesting advances and helpful educational resources in … Medicine … Accomplishments in Genomic Medicine … A list of interesting advances and helpful educational resources in …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions are under investigation by researchers at or associated with the National Human Genome Research Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… (FDA) approved two gene therapies for the treatment of sickle cell disease in patients 12 years and older. About … effective therapies. For example: NIH investments in genome sequencing technology have led to the costs of whole genome …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… Combined Immunodeficiency is a severe, genetic condition of the immune system. … Severe Combined Immunodeficiency … in on-going studies by physicians at the National Human Genome Research Institute. … Lymphocytes, a type of white … blood samples and take hours to prepare. The high cost of current testing has prohibited newborn screening on a …
Health FAQ
Discuss these questions with your doctor or health care provider.
… only. They are meant to promote your general understanding of gene therapy for sickle cell disease. We encourage you to … eligibility, you may have to undergo certain tests as part of the screening process. … If you are eligible and decide to … or other medications. … Gene therapy involves a series of steps over a long period of time, some of which will …
Fact Sheet
Your mental and physical health are deeply connected. Mental health is important for your overall health and quality of life.
… can have a strong impact on your physical health. Because of this, it’s important to care for your mental and physical … and your support system. … … … Reflect on what kind of support system you will need. Your support system will … therapy Check out the sickle cell disease gene therapy FAQ Cost What costs does the clinical trial cover? What costs are …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.
… Metabolism is a sequence of chemical reactions that take place in cells in the body. These reactions are responsible for the breakdown of nutrients and the generation of energy in our bodies. Inborn errors of metabolism (IEM) …
Fact Sheet
Diversos enfoques se dirigen a las células madre sanguÃneas para aliviar o reducir los sÃntomas de la anemia de células falciformes.