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- 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 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 Program6
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
The goat has contributed its DNA to a new method for high-quality, low-cost genome reconstruction, one that will be useful for reading human and other genomes.
… 10,000 years ago. Now, the goat has contributed its DNA to a study that presents a new method for high-quality, low-cost genome reconstruction. In addition to the goat genome, this technique will be useful for … for learning about the genetic causes of health and disease and, in animals, for making breeding decisions. San …
Educational Resources
Huntington's disease is an inherited disease characterized by the progressive loss of brain and muscle function.
… Huntington's Disease … Huntington's disease is an inherited disease characterized by the … copy of the responsible gene (called HTT) is sufficient to cause the disease. … Educational Resources …
News Release
Researchers from The Cancer Genome Atlas Research Network identify novel mutations in a well-known cancer-causing pathway in lung adenocarcinoma.
… cancer-causing pathway in lung adenocarcinoma, the most common subtype of lung cancer. Knowledge of these genomic changes may expand the number of possible therapeutic … Mutations affecting the RTK/RAS/RAF pathway can cause it to become stuck in the "on" state. As a result, signals that …
News Release
Small businesses with NHGRI grants were instrumental in contributing to the completion of the human genome sequence, redefining the future of genomics.
… with NHGRI grants were instrumental in contributing to the completion of the human genome sequence, redefining … a biotechnology startup in downtown Baltimore. According to Liu, the success of Circulomics would not have been … vision. “We are trying to understand human health and disease and building a repository of knowledge for …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a … generation of therapies. Sickle cell disease is the most common inherited blood disorder in the United States, …
Research Funding
​The Undiagnosed Diseases Network accelerates discovery and innovation in how we diagnose and treat patients with previously undiagnosed diseases.
… Applications UDN does not accept all applicants due to the complex nature of the body and the diseases being … with undiagnosed diseases through the development of common protocols designed by a large community of … clinical sites. The DMCC will also support Research Cores (genomic sequencing, model organisms screening center, …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… ClinGen panel also validates three genes believed to be associated with long QT syndrome … Geneticists and … of the genes to be definitively associated with the most common form of the disease. The work was funded by the … for ClinGen and program director in the Division of Genomic Medicine at NHGRI. … “Our study highlights the need …
News Release
Researchers analyzing human, fly, and worm genomes have found these species have key genomic processes in common, reflecting their shared ancestry.
… genomes have found that these species have a number of key genomic processes in common, reflecting their shared ancestry. The findings, … gene regulation and other biological processes vital to understanding human biology and disease. … The studies …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… sequencing technologies can generate detailed catalogs of genomic variants, researchers face an ongoing challenge of … the most difficult challenge that we face in trying to implement genomic data in medicine," said James Evans, … genetic basis of a disease. "Will it be driven by common or rare variations?" he said. The paper stressed the …
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the … of the kidneys, and can reduce kidney function and lead to kidney failure. … Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common forms of polycystic kidney disease. It is present at …