Search Results
News Release
NHGRI researchers and their international collaborators have added Williams-Beuren syndrome to the Atlas of Human Malformation Syndromes in Diverse Populations.
… 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. … of diverse people with Williams-Beuren Syndrome to the atlas , healthcare providers will better recognize and …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… 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. … Previously, the only available diagnostic atlas featured photos of patients with northern European …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their … used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans. They announced 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. … bleeding problems, developmental delays, and malformations of the bones 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.
… Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, and their … recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … 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 … Genomic Databases They found significantly fewer studies of African, Latin American and Asian ancestral populations …
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 …
Educational Resources
A gene pool is the total genetic diversity found within a population or a species.
… 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 …
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 all populations are knowledgeable about the science underpinning … 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
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 …