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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… called enhancers, which act like switches to control gene activities. Dr. O'Shea's team wondered if the … Content … NIH researchers reveal link between powerful gene regulatory elements and autoimmune diseases … NIH …
Research at NHGRI
The Genetic Disease Research Branch studies how genetic changes affect the structure and function of gene products leading to human disease.
… which genetic changes affect the structure and function of gene products leading to human disease. … A major focus of … how genetic changes affect the structure and function of gene products leading to human disease. … The Genetic Disease … how genetic changes affect the structure and function of gene products leading to human disease. … Research at NHGRI …
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… tumor is characterized by genetic rearrangements near a gene important in DNA repair and in maintaining telomerase, … the first to show specific alterations affecting the TERT gene that could affect cancer development, and might help explain its increased expression - and deregulation - in cancer. Overall, the …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… “search the genome” approach to reveal how mutations in a gene called UBA1 are associated with inflammatory diseases … syndrome (VEXAS), which is caused by mutations in the UBA1 gene. VEXAS causes symptoms that included blood clots in … syndrome (VEXAS), which is caused by mutations in the UBA1 gene. Credit: Harry Wedel, NHGRI. Researchers at the …
The Genomics Landscape
In the October 1, 2020 edition of The Genomics Landscape, Dr. Eric Green reflects on the last 30 years since the launch of the Human Genome Project.
… 30 years ago. … Researchers from the Genotype-Tissue Expression Project (GTEx) consortium, an NIH Common Fund … a set of studies describing how DNA variation can alter gene expression. The group of papers, published in Science … most comprehensive catalog of genomic variants that affect gene expression produced to date. The studies focus on …
Staff
Dr. Laura Elnitski is a senior investigator in the Translational and Functional Genomics Branch at the National Human Genome Research Institute.
… genomics, epigenetics, and transcriptomics to uncover gene regulatory mechanisms that drive disease progression and … RNA splicing, and chromatin architecture in shaping gene regulation in genetic diseases and cancer. This work … by correlating cross-tissue epigenetic profiles and gene expression . Genome Res . 2019 Apr;29(4):657-667. doi: …
News Release
Researchers find weaker immune response to viral infections in children with mitochondrial disorders
NIH researchers analyzed the gene activities of immune cells in children with mitochondrial disorders and found that their B cells, which produce antibodies to fight viral infections, are less able to survive cellular stress.
… Human Genome Research Institute (NHGRI), who analyzed gene activity of immune cells in children with mitochondrial … called single-cell RNA sequencing, which analyzes gene activity in different cell types, researchers studied … mitochondrial disorders … NIH researchers analyzed the gene activities of immune cells in children with …
News Release
A new study offers insights into why some people's hair goes gray in response to a serious illness or chronic stress.
… the invaders. The researchers found that the MITF/em> gene downregulates the innate immune system's interferon … (or interferon signature) in pigment cells. The MITF gene is a crucial regulator that drives many functions of … that decreased levels of the MITF gene. Decreasing the expression of the MITF gene in the mutant mice increased the …