Search Results
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. …
Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… hereditary. VCFS is characterized by a combination of medical problems that vary from child to child. These … medical problems include: cleft palate, or an opening in the roof of the mouth, and other differences in the … of the body. Each chromosome contains hundreds of genes. A human cell normally contains 46 chromosomes (23 from each …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… 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
Researchers funded by NIH have completed a detailed atlas documenting stretches of human DNA that influence gene expression.
… Faherty … 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 …
Educational Resources
Population genomics is the application of genomic technologies to understand populations of organisms.
… Genomics … Population genomics is the application of genomic technologies to understand populations of organisms. … Gene, Genome, Genetic Variation, Allele, Founder Effect, Genetic Drift, HapMap, Human Genome Project … Population genomics is the large-scale …
Educational Resources
A syndrome is a collection of recognizable traits or abnormalities that tend to occur together and are associated with a specific disease.
… Syndrome … A syndrome is a collection of recognizable traits or abnormalities that tend to occur … Disease … 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. … A syndrome is a collection …
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
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. … People who have Down … loss. Some people who have Down syndrome have low activity of the thyroid gland (hypothyroidism) - an organ in the lower … Down Syndrome National Institute of Child Health and Human Development th and Human Development. MedlinePlus …
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 …