Search Results
Research Funding
Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to develop and implement approaches to integrating extant genotype and phenotype data for the purpose of conducting and disseminating Consortium-wide PRS analyses.
… Grantees  Institution (Contact PI) PIs Title University of Maryland, Baltimore Sally Adebamowo*, Michele Ramsay, … Risk Score (PRS) Methods and Analysis for Populations of Diverse Ancestry — Study Sites University of Southern … California** David Conti*, John Witte Leveraging Diversity in Cancer Epidemiology Cohorts and Novel Methods to Improve …
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 …
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 …
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 …