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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 Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program4
- 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
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 100,000 Americans and millions of people around the world have sickle cell disease , a … (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine …
Fact Sheet
Diversos enfoques se dirigen a las células madre sanguÃneas para aliviar o reducir los sÃntomas de la anemia de células falciformes.
Fact Sheet
Actualmente, existen diferentes enfoques de terapia génica disponibles a través de ensayos clÃnicos.
Health FAQ
Comente estas preguntas con su médico o su equipo del estudio clÃnico.
Hoja Informativa
Su salud mental y su salud fÃsica están Ãntimamente conectadas. La salud mental es importante para su salud y su calidad de vida.
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 …
Fact Sheet
Understanding gene therapy for sickle cell disease
… than 100,000 people. … Presently, there are only a handful of options to manage or treat sickle cell disease.  Now, … and individuals. This group met over the course of four workshops. … The Democratizing Education Project … sickle cell disease and the gene therapy and biomedical research communities. They include helpful information and …
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 … … NHGRI Genomic Medicine Working Group has compiled a list of interesting advances. … Genomic Medicine, Milestones In …
Fact Sheet
Learn about the different types of hemoglobin.
… first know about blood cells and the different types of hemoglobin that make up red blood cells. … Hemoglobin … and tissues. Every red blood cell contains thousands of hemoglobin molecules.   The genes in our body code for different types of hemoglobin. We will focus on three types:  Hemoglobin F , …