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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program4
- 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
Research Funding
A list of funding opportunities in genomics research provided by NHGRI and the National Institutes of Health.
… The National Human Genome Research Institute supports research and training and career … Trial Optional): NOT-HG-24-032  Center for Inherited Disease Research (CIDR) High Throughput Sequencing and … Intersection of Sex and Gender Influences on Health and Disease (R01 Clinical Trial Optional) RFA-OD-22-028 …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… researchers have identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring … The team's discovery coincides with findings by an Israeli research group that identified an overlapping set of variants … but to fundamental new insights into blood vessel disease. In their study, which appears in the Feb. 19, 2014, …
News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… unknown illness. Researchers at the National Human Genome Research Institute (NHGRI), part of the National Institutes … have now identified the cause of the illness, a new disease called CRIA syndrome. The results were published in … has characteristics typical of an autoinflammatory disease, where the immune system appears to be activated …
Research Training
The Summer Internship Program in Biomedical Research provides students the opportunity to perform biomedical research with some of the world's best scientists.
… The Summer Internship Program in Biomedical Research provides students at all levels the opportunity to perform biomedical research alongside some of the world's most accomplished … the underlying causes of human genetic disease, leading to the development of novel methods for the …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… The Big Picture Sickle cell disease is an inherited disorder caused by a change in the … (FDA) approved two gene therapies to treat sickle cell disease. More than 50 scientists, physicians, patients and … sickle cell disease and the gene therapy and biomedical research communities.  … This project created …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… The investigators in the Center for Precision Health Research (CPHR) develop and evaluate cutting edge genomic and … to improve the diagnosis, treatment and prevention of disease to foster next-generation healthcare. … The Center … common diseases associated with common genetic variants to rare diseases associated with rare variants. They also study …
News Release
NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations.
… … NIH-backed African scientists are engaged in a global research endeavor to understand the genetic basis of disease in all populations. But this can only be done by … are missed to advance not only the understanding of disease within those populations, but also for humans across …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the … Alliance Urology Cure Foundation National Organization for Rare Disorders Genetic and Rare Disease Information Center Finding Reliable Health …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a … to explore two approaches for reducing the burden of the disease. The first approach will let researchers correct the … concerned about treatment risks and transparency of the research enterprise, according to National Institutes of …
Clinical Research
A study to learn more about the role of viral infection and biomarkers of immunity in mitochondrial disease, utilizing new technology with Neoteryxâ„¢ fingerstick at-home sampling.
… infection and biomarkers of immunity in mitochondrial disease using new technology with Neoteryx ™ fingerstick … of the immune system in people with mitochondrial disease by using the Neoteryx ™ fingerstick at-home blood … please contact us at ministudy@nih.gov or Shannon Kruk, Research Nurse and Study Coordinator, at (301) 451-9145. … …