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News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have collaborated with … and medical geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. …
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute and their international … collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations. … By …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their … the study. The researchers will add Noonan syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… Jeannine Mjoseth … Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their … DiGeorge syndrome and Down syndrome are now part of the Atlas of Human Malformations in Diverse Populations ( …
News Release
Three summer interns advanced biomedical research as part of the NIH Summer Internship Program in Biomedical Sciences.
… Kiara Palmer … Brenda Iriele grew up seeing first-hand the human cost of inadequate healthcare. Raised in Nigeria, a country where … project was to assist scientists with building out the Atlas of Human Malformation Syndromes in Diverse Populations
Leadership Initiatives
NHGRI aims to ensure all populations are knowledgeable about and can participate in genomics research.
… The National Human Genome Research Institute (NHGRI) wants to ensure that … genomics research, and have the opportunity to participate in various ways, such as becoming research scientists, … Genome Project, perhaps the greatest scientific endeavor of the 21st century, has changed the way medicine is …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… bleeding problems, developmental delays, and malformations of the bones of the rib cage. … Noonan syndrome is a disorder that … of the rib cage. Noonan syndrome is caused by changes in one of several autosomal dominant genes. A person who has …
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.
… Members of the Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium will work together to …
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. …
News Release
NIH-funded research highlights need for diversity in study populations, creates a comprehensive genomic toolkit for scientists
… Ph.D. … NIH-funded research highlights need for diversity in study populations, creates a comprehensive genomic toolkit … better understand how genomic variants influence the risk of forming certain diseases in people of different ethnic groups. The work was funded by the National Human Genome Research Institute (NHGRI) and the National …