Search Results
Clinical Research
GENE-FORECAST® is developing a community cohort and resource for defining the significance of ancestry-related genomic variation in African-Americans.
… The Genomics, Environmental Factors and the Social Determinants of Cardiovascular Disease in Africans Americans Study (GENE-FORECAST®) study is developing … ancestry-related genomic variation in African-Americans. … Genetic Disorder, Genetic Condition, Gene Variation, Gene …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… NHGRI Communications and Public Liaison Branch … In the largest genomics study of … researchers and their collaborators have identified mutations in the TAF1 gene. They've also demonstrated that … cells from patients with CCEC. Their goal was to identify genetic mutations in CCEC tumor cells that are absent from …
Educational Resources
Deletion is a type of mutation involving the loss of genetic material.
… … Deletion is a type of mutation involving the loss of genetic material. … Genetic Mutation, Base Pair, DNA, Chromosome … A deletion, as … … Deletion is a type of mutation involving the loss of genetic material. … Educational Resources …
News Release
Researchers sequence the genomes of healthy participants, then analyze the data to find presumed, mutations that might lead to a genetic condition.
… find a mutation in the genomic sequence of a person with a genetic disease, they sequenced the genomes of healthy … then analyzed the data to find "putative," or presumed, mutations that would almost certainly lead to a genetic … of them indeed had the disease when researchers went back and carefully evaluated them, said Leslie G. Biesecker, M.D., …
News Release
An international team of researchers including NIH has completed the first comprehensive characterization of genomic diversity across sub-Saharan Africa.
… conditions in people of sub-Saharan African ancestry, and indicates that the migration from Africa in the early … exposure to infectious agents, have shaped the genomes of Africans and their susceptibility to many conditions, … including malaria, Lassa fever and trypanosomiasis. The genetic variant frequency in populations from endemic and …
News Release
The largest genomic study on type 2 diabetes in Africans to date has recently been published in Nature Communications and reports the most recent findings of the ongoing Africa America Diabetes Mellitus (AADM) study that has been led by Dr. Charles Rotimi for over two decades.
… Bentley … The largest genomic study on type 2 diabetes in Africans to date has recently been published in Nature Communications and reports the most recent findings of the ongoing Africa … News: Landmark Study of the Genomics of Type 2 Diabetes in Africans Identifies African-specific Risk Locus … The largest …
News Release
This publication and the release of the accompanying data address knowledge gaps across genomics and are certain to have a continuing impact in the field.
… limited degree to which this variation has been sampled and evaluated . … A ground-breaking report published in … selection on genes related to viral immunity, DNA repair, and metabolism. This paper also makes an important … contributions to genomic studies that will benefit Africans and all humanity.” Center Staff Scientist, Dr. …
Educational Resources
A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms.
… Carrier … A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms. … Genetic …
News Release
Researchers identified regions of the genome associated with skin color variation in some African populations, furthering skin disease and cancer research.
… opening new avenues for research on skin diseases and cancer in all populations. … These findings may help … how the cells that produce skin pigment - melanocytes - and genes work together to protect skin from the damaging … co-author of the study and senior investigator in the Genetic Disease Research Branch at NIH's National Human …
Genetic Disorders
Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene.
… common form of inherited intellectual disability in males and is also a significant cause of intellectual disability in females. It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial and ethnic … this may be the only sign of the problem. A specific genetic test (polymerase chain reaction [PCR]) can now be …