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- 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
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
Genetic Disorders
Sickle cell disease is a group of inherited red blood cells disorders.
… Sickle cell disease is a group of inherited red blood cell disorders. … Sickle cell disease is the most common inherited blood disorder in the … drug treatment, improved medical care and aggressive research, half of sickle cell patients live beyond 50 years. …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… Jeannine Mjoseth … National Human Genome Research Institute (NHGRI) researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies. Findings on this ultra-rare disease, found in approximately 600 people in the world, …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… Researchers at the National Human Genome Research Institute (NHGRI) are working with patients and … and clinical decline in individuals with mitochondrial disease. … Clinical studies give us a better understanding of … to learn more about the genetic components of common and rare disorders, and to develop new and more effective tests …
News Release
The U.S. Food and Drug Administration has approved the first treatment for progeria, a rare and fatal pediatric disease, characterized by dramatic, rapid aging beginning in childhood.
… M.D., Ph.D., available to discuss this major advance for rare, fatal pediatric disease. … What The U.S. Food and Drug Administration has … and Senior Investigator at the National Human Genome Research Institute (NHGRI), Francis S. Collins, M.D., Ph.D., …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting … study, led by researchers at NIH's National Human Genome Research Institute (NHGRI) and the Eunice Kennedy Shriver … Human Molecular Genetics . Niemann-Pick disease is a rare and fatal disorder of the central nervous system (the …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… Gaucher disease (GD) is a rare (autosomal recessive) genetic … Further understanding of this risk is a main focus of research of our team. … Ongoing, currently recruiting: … between Gaucher disease and parkinsonism: Insights from a rare disease. Neuron 93:137-46,2017. PMID: 28231462 Borger …
Staff
Dr. ​Adam Felsenfeld is a program director in the Division of Genome Sciences at the National Human Genome Research Institute.​
… specific responsibility for the NHGRI Centers for Common Disease Genomics program and the GSP Analysis Centers. Dr. … genome sequencing, DNA sequencing, common diseases, rare diseases … Adam Felsenfeld, genome sequencing, DNA … Division of Genome Sciences at the National Human Genome Research Institute.​ … Staff …
News Release
20 papers published online in 2014 highlight research on DNA biorepositories and electronic medical records to better understand the genomics of disease.
… of nearly 20 papers published online in 2014 highlights research on the use of DNA biorepositories and electronic … (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of … (NIH). The major goal of eMERGE is to better understand disease risk and susceptibility and, ultimately, improve …
Research Funding
NHGRI solicits grant applications that relate to its scientific priorities and research interests
… submitted to the National Institutes of Health (NIH) for research or research training are investigator-initiated proposals. These … special grant solicitations targeted toward specific research interests and priorities. Program announcements (PA) …
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, …