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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program5
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NIH researchers have identified a striking signature in tumor DNA that occurs in five different types of cancer.
… the DNA of people with and without cancer. By feeding this information into the program, they were able to predict a … Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at its website, … and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov . … …
News Release
NIH researchers identified a novel role for a gene known as heat shock protein 60, finding it is critical in tissue regeneration and wound healing.
… Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: www.genome.gov . The … address special needs of people with vision loss. For more information, visit www.nei.nih.gov . About the National …
News Release
An international team of researchers including NIH has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa.
… associations are identified, researchers can use the information to develop better strategies to detect, treat and … genomes from Africans. The team then added their research information to the available data from the 1000 Genomes … Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: www.genome.gov . … and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov . …
Staff
William J. Pavan, Ph.D. is the chief of NHGRI's Genetic Disease Research Branch.
… C. By integration of basic science research with clinical information from human patients, Dr. Pavan works to identify … for the disease traits. They went on to use this information to reveal that the orthologous human gene NPC1 … of NPC1 rescued neurodegenerative disease, essential information for designing therapeutic interventions. More …
News Release
NIH researchers have successfully identified differences in gene activity in the brains of people with attention deficit hyperactivity disorder (ADHD). The study, led by scientists at the National Human Genome Research Institute (NHGRI), found that individuals diagnosed with ADHD had differences in genes that code for known chemicals that brain cells use to communicate.
… and activation of brain areas. However, these studies lack information at the level of genes and how they might …
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
… of genome function and inform the use of genomic information in medical care.” After nearly two decades of …
Research at NHGRI
The NHGRI Division of Intramural Research aims to advance the frontiers of genetics and genomics.
News Release
NIH Center for Research on Genomics and Global Health is participating in the H3Africa Consortium's effort to develop an African-specific genotyping array.
… to detect genetic variants in an individual's DNA. This information can then be used in genome-wide association …