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- Ethical, Legal and Social Implications (ELSI) Research Program5
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- 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 Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- 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
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these … is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a change in the DNA … in one gene (monogenic disorder), by mutations in multiple genes (multifactorial inheritance disorder), by a combination …
News Release
Three research teams funded by NIH gather data at the most basic molecular levels about the biological processes that make up the human microbiome.
… tens of thousands of microbial species that live in or on human beings - the human microbiome - they would find … pregnancy and preterm birth, onset of inflammatory bowel disease and onset of type 2 diabetes. Importantly, as with … judging from the array of common functions of bacterial genes, if the bacteria are healthy, each individual's …
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.
… a single gene. The awards will be provided by the National Human Genome Research Institute (NHGRI), part of NIH, and are … researchers have been identifying about 300 Mendelian disease genes each year using a technique called whole-exome …
Fact Sheet
A variety of approaches target the blood stem cells to relieve or reduce your symptoms of sickle cell disease.
… differ and other treatment options for sickle cell disease, such as bone marrow transplant. Each of these … treatment approaches aim to modify the severity of the disease. Learn more about your red blood cells to help you … , your stem cells are changed by altering part of your genes. Types of gene therapy include gene addition and gene …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
… and may have their DNA sequenced to detect variations in genes that may underpin their disorders. "The UDN aims to …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … … NIH awards $50.3 million for “multi-omics” research on human health and disease September 12, 2023 … Multi-Omics for … … NCI … NIEHS … Contributing NIH Institutes: National Human Genome Research Institute (NHGRI) National Cancer …
Fact Sheets
Un ratón con genes desactivados es un ratón de laboratorio en el que los investigadores han desactivado, o "noqueado", un gen existente.
… Un ratón con genes desactivados [en inglés, conocidos como "ratones … y físicas observables. … ¿Para qué se usan los ratones con genes desactivados? Dejar fuera la actividad de un gen ofrece … ese gen hace normalmente. Los seres humanos tienen muchos genes en común con los ratones. Por consiguiente, observar …
CRGGH is now part of the newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch.
… past year, the Intramural Research Program of the National Human Genome Research Institute (NHGRI) has been reorganized. … newly-created Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch (MCIDGB). … As described by NHGRI … joins NHGRI's Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch … CRGGH is now part of the …
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.
… era in genomics research. … Researchers at the National Human Genome Research Institute (NHGRI), part of the National … to sequence. Yet, these repetitive segments include genes and other functional elements that may be relevant to human health and disease. Because a human genome is incredibly long, …
News Release
NHGRI published its “Strategic vision for improving human health at The Forefront of Genomics” in the journal Nature. This vision describes the most compelling research priorities and opportunities in human genomics for the coming decade, signaling a new era in genomics for the Institute and the field.
… … NHGRI's 2020 Strategic Vision describes opportunities in human genomics for improving human health. … The National Human Genome Research Institute (NHGRI), part of the National …