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Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals. … Marfan syndrome is one of the most common inherited disorders of connective tissue. … It is an autosomal dominant condition occurring once in every 10,000 to 20,000 individuals. There is a wide …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome (DS) is a miswiring of the eye muscles, causing some eye muscles to contract when … disorder the individual has. However, other conditions and syndromes have been found in association with DS. These include malformation of the skeleton, ears, eyes, kidneys and nervous …
News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… Brenda Iriele grew up seeing first-hand the human cost of inadequate healthcare. Raised in Nigeria, a country where only two healthcare providers are … project was to assist scientists with building out the Atlas of Human Malformation Syndromes in Diverse Populations …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… Study finds that sickle cell trait is prevalent among diverse human populations. … National Institutes of Health (NIH) researchers and collaborators have found that … risk of blood clots, a risk that is the same among diverse human populations that may not traditionally be associated …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… A syndrome is a collection of recognizable traits or abnormalities that tend to occur … A syndrome, as related to genetics, is a group of traits or conditions that tend to occur together and characterize a recognizable disease. Some syndromes have a genetic cause. …
News Release
Researchers funded by NIH have completed a detailed atlas documenting stretches of human DNA that influence gene expression.
… Researchers funded by the National Institutes of Health (NIH) have completed a detailed atlas documenting the stretches of human DNA that influence gene expression - a key way in which … The atlas is the culmination of work from the Genotype-Tissue Expression (GTEx) …
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.
… 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
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 … face, prominent forehead and chin and protruding ears. In addition males who have fragile X syndrome have loose …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… condition related to chromosome 21. It affects 1 in 800 to 1 in 1000 live born infants. … facial appearance, and poor muscle tone (hypotonia) in infancy. Individuals with Down syndrome also have an … loss. Some people who have Down syndrome have low activity of the thyroid gland (hypothyroidism) - an organ in the lower …
Educational Resources
Population genomics is the application of genomic technologies to understand populations of organisms.
… Population genomics is the application of genomic technologies to understand populations of organisms. … Variation, Allele, Founder Effect, Genetic Drift, HapMap, Human Genome Project … Population genomics is the large-scale application of genomic technologies to study populations of individuals. …