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- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program4
- Human Genome Reference Program (HGRP)1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… help researchers identify the genetic causes of single-gene diseases. Over 400 million people worldwide have been … generally thought to be caused by mutations in a single gene. The awards will be provided by the National Human … research community to perform more robust Mendelian gene discovery projects. The new clinical centers will be led …
Educational Resources
A promoter is a sequence of DNA needed to turn a gene on or off.
… Promoter … A promoter is a sequence of DNA needed to turn a gene on or off. … Deoxyribonucleic Acid (DNA), Enzyme, Gene, Gene Expression, Gene Regulation, Messenger RNA (mRNA), …
The Genomics Landscape
In the August 2018 edition of The Genomics Landscape, NHGRI Director Eric Green announces the recent launch of the NHGRI Genomic Innovator Award.
… can then face hurdles when applying for their first NIH grants since their unique contributions and capabilities can … a 'people-based' approach. Historically, most NIH-funded grants, such as the traditional R01, have been … R01 Novel Approaches for Relating Genetic Variation to Function and Disease - R21 and R01 Development of Cell and …
Fact Sheets
A transcriptome is a collection of all the gene readouts present in a cell.
… A transcriptome is a collection of all the gene readouts present in a cell. … The human genome is made … words, copied - into RNA ( ribonucleic acid ) . These gene readouts are called transcripts, and a transcriptome is … picture of what genes are active in which cells. … The function of most genes is not yet known. A search of a …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… that the syndrome is caused by mutations in a single gene, they considered the possibility that multiple genes are … symptom – canker sores. The group looked into whether the gene variants known to be associated with those diseases were … and canker sores. The strongest association was with the gene IL12A , which encodes an inflammation-related protein …
Media Availability
Researchers find that more than 80 percent of mouse genes had variations in the nearby regulatory DNA that affects gene activity.
… DNA sequences near genes that control when and how much a gene is turned on and off, or expressed, are often extremely important for gene activity. … To paint a clearer picture of how such … of Health. The NHGRI Extramural Research Program supports grants for research and training and career development at …
The Genomics Landscape
In the August 6, 2020 edition of The Genomics Landscape, Dr. Eric Green talks about NHGRI's completion of the third phase of the ENCODE Project and how it reveals the most extensive catalog to date of candidate functional elements that may regulate the genes in the human and mouse genomes.
… elements, which act as “switches” to regulate gene transcription. The ENCODE findings point to millions of … insights into the DNA modifications that influence genome function, the proteins that bind to DNA, and how RNA molecules interact to regulate gene expression. The results reported in the ENCODE 3 …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… and environmental factors. … Genes, Cancer, Heart Disease, Gene-environment Interactions … A complex disease (or … that is more directly caused by mutations in a single gene. Common examples of complex genetic diseases include …
The Genomics Landscape
In the July 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., reflects on the legacy the LINCS program leaves as it has completed its goal of creating a large-scale, systematically generated molecular and cellular dataset.
… result in some changes to how NIH staff members function, as (like for many aspects in society) we begin … Novartis) have created their own LINCS-related low-cost gene-profiling technologies, and Novartis has even leveraged … specific diseases and biological processes (not including grants to LINCS investigators themselves). Such a response …
Educational Resources
A cytogeneticist is a geneticist who specializes in the study of chromosomes and the structure and function of the cell.
… in the study of chromosomes and the structure and function of the cell. … Chromosomes, Microscopy, Careers … A … in the study of chromosomes and the structure and function of the cell. … A cytogeneticist is a geneticist who … in the study of chromosomes and the structure and function of the cell. … Educational Resources …