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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 …
The Genomics Landscape
In the June 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details NHGRI's new Diversity in Genomics Workforce Initiative.
… Eric Green, M.D., Ph.D. … This issue of The Genomics Landscape  comes at an especially difficult time, with the events of the last week in cities across the United States on top of the illness, … leading up to the 30th anniversary of the launch of the Human Genome Project in October 2020. I encourage you to …
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 from …
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 …
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 … ( RFA HG-12-010  and RFA HG-12-015 ). The first phase of PAGE examined putative causal genetic variants across … Staff … The PAGE Consortium investigates ancestrally diverse populations to gain a better understanding of how …
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. … Cri du chat syndrome - also known as 5p- … low birth weight and weak muscle tone (hypotonia) in infancy. The cat-like cry typically becomes less apparent …