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- Ethical, Legal and Social Implications (ELSI) Research Program6
- 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)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
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… an inherited intellectual disability caused by a mutation in the FMR1 gene. … Fragile X syndrome is the most common form of inherited intellectual disability in males and is also a significant cause of intellectual disability in females. It affects about 1 in …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… finds that sickle cell trait is prevalent among diverse human populations. … National Institutes of Health (NIH) researchers and collaborators have found that … backgrounds with sickle cell trait.  The study, published in Blood Advances , was led by researchers at National Human …
News Release
NIH will fund grants totaling $38 million over five years to develop methods that will improve the way that polygenic risk scores can be used to predict disease in diverse communities.
… and one coordinating center. … The National Institutes of Health (NIH) will fund grants totaling $38 million over … that polygenic risk scores can be used to predict disease in diverse communities. Polygenic risk scores, often referred … people with and without a particular disease. The National Human Genome Research Institute (NHGRI), part of NIH, will …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is … syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is …
Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… is a chromosomal condition that alters development in females. … Turner syndrome is a chromosomal condition that … are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… (APS) is a disorder characterized by elevated levels of multiple different antibodies that are associated with both arterial and venous thrombosis (clots in the arteries and veins). … Antiphospholipid syndrome … syndrome, is a disorder characterized by elevated levels of multiple different antibodies (proteins produced by the …
Educational Resources
Down syndrome is a genetic disease resulting from a chromosomal abnormality.
… Trisomy 21) is a genetic condition caused by an error in the process that replicates and then divides up the pairs of chromosomes during cell division, resulting in the inheritance of an extra full or partial copy of chromosome 21 from a …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… The Big Picture Appropriate use of population descriptors in research is a critical scientific issue that is important … advancing genomic science and improving healthcare across human populations. Thoughtful use by researchers and other …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… syndrome is a rare genetic condition caused by a deletion of a group of genes located on chromosome number 11. Babies born with … (W)ilms' Tumor, the most common form of kidney cancer in children. (A)niridia, some or complete absence of the …
Training, Diversity and Health Equity Office (TiDHE)
The Diversity Centers for Genome Research Consortium aims to support the development of innovative genomic research projects through infrastructure building and the formation of interdisciplinary research teams at Minority Serving Institutions (MSIs), institutions with a documented record and/or historical and current mission of recruiting, educating, training and graduating students from any of the populations identified as underrepresented in biomedical research.
… Genome Research Consortium aims to support the development of innovative genomic research projects through … from any of the populations identified as underrepresented in biomedical research as defined by the National Science … For Genome Research Lunch and Learn: The Role of the Human Lipidome in Complex Disease March 22, 2024  Chan …