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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 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 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 …
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 …
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
Diverse populations are still underrepresented in public genomic databases, according to a new study by researchers from the NIH and Harvard Medical School.
… … Precision medicine will largely be built on vast troves of genomic information, but diverse populations are still underrepresented in public genomic databases, according to a new study by … Social and Behavioral Research Branch at NIH's National Human Genome Research Institute (NHGRI). Mr. Bonham is also …
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 …
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. …
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 …
Educational Resources
A gene pool is the total genetic diversity found within a population or a species.
… Genetics … A gene pool refers to the combination of all the genes (including alleles) present in a reproducing population or species. A large gene pool has … Inbreeding contributes to a smaller gene pool, making populations or species less able to adapt and survive when …