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Genetic Disorders
Turner syndrome is a chromosomal condition that alters development in females.
… is a chromosomal condition that alters development in females. … is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than … are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this …
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 … Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is … as expected. Adult males may come to the doctor because of infertility. Klinefelter syndrome is associated with an …
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 …
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). … syndrome, is a disorder characterized by elevated levels of multiple different antibodies (proteins produced by the …
Research Funding
The PAGE Consortium investigates ancestrally diverse populations to gain a better understanding of how genetic factors influence susceptibility to disease.
… highlighted the need to further explore initial findings in non-European populations. The Population Architecture using Genomics and … ( RFA HG-12-010 and RFA HG-12-015 ). The first phase of PAGE examined putative causal genetic variants across … Page II Study Investigators Genetics Epidemiology of Causal Variants Across the Life Course (CALiCo Consortium) …
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 … and are at high risk for developing certain types of cancer, and mental disability. … and are at high risk for developing certain types of cancer, and mental disability. The term "WAGR" stands for …
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 … science. They were used in population surveys for purposes of taxation, government representation, counting enslaved …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5. … condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of chromosome 5. The cause of this rare chromosomal deletion …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… a genetic condition that affects a person’s development, in particular their ability to learn and their social … gene on the X chromosome. Because males have only one copy of the X chromosome, they are more likely to show severe … the mutated gene compared to females (who have two copies of the X chromosome). …
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.
… a “search the genome” approach to reveal how mutations in a gene called UBA1 are associated with inflammatory … Researchers from the National Institutes of Health (NIH) have discovered a new inflammatory disorder … genes to disease diagnosis. Researchers from the National Human Genome Research Institute have discovered a new …