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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.
… of Medical Genetics Though Williams-Beuren syndrome is a genetic condition, most cases are not inherited. Signs and … in Diverse Populations," an ongoing series that evaluates genetic syndromes around the globe using facial analysis …
Educational Resources
A gene pool is the total genetic diversity found within a population or a species.
… Gene Pool … A gene pool is the total genetic diversity found within a population or a species. … Genetic Diversity, Genes, Extinction, Population Genetics … A …
News Release
NHGRI researchers collaborated with physicians and medical geneticists worldwide to create the Atlas of Human Malformation Syndromes in Diverse Populations.
… who are diagnosing and treating birth defects and genetic diseases in people of diverse ancestry." Congenital … on clinical genetics (the practice of medicine focused on genetic disorders) to a standing-room-only audience. … Issues Before posting photos of diverse people affected by genetic diseases, the team requested an ethics consultation …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… and blood clots have only included individuals of African genetic ancestry and self-identified Black participants because of the incorrect assumption that the genetic carrier state only affects those who identify as … analyses, participants were grouped based on their genetic similarities into genetic ancestry groups. The study …
News
To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score.
… Improved genetic tests more accurately assess disease risk regardless of genetic ancestry. … To prevent an emerging genomic technology … of their genetic ancestry,” said Dr. Lennon. “The diversity of the All of Us dataset was critical for our …
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.
… Southern California** David Conti*, John Witte Leveraging Diversity in Cancer Epidemiology Cohorts and Novel Methods to … (PRIMED) Consortium … Polygenic Risk Score (PRS) Diversity Consortium will work together to develop and …
News Release
NHGRI researchers and their collaborators, have successfully used facial analysis software to diagnose Noonan syndrome in Africans, Asians and Latin Americans.
… and determine whether they had Noonan syndrome, a common genetic disease. Image Credit: Darryl Leja, NHGRI. The … Noonan syndrome, especially in countries without access to genetic services or genetic testing," said Maximilian Muenke, M.D. , atlas …
Healthcare Provider Genomics Education Resource
An FAQ designed to help healthcare professionals understand the diverse landscape of direct-to-consumer (DTC) genetic testing and the benefits and limitations of these tests.
… Direct-to-Consumer Genetic Testing for Healthcare Professionals What is direct-to-consumer genetic testing? Direct-to-consumer genetic tests (DTC-GT) are genetic tests sold directly to …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… Genetic Testing … Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. … Genetic Variation, Genetic Testing, Genetic Counselor, …
Educational Resources
Genetic counseling is the professional interaction between a healthcare provider with specialized knowledge of genetics and an individual or family.
… Genetic Counseling … Genetic counseling is the professional interaction between a … knowledge of genetics and an individual or family. … Genetic Counseling, Healthcare, Prenatal Testing, Genetic Disease, Genetic Disorder, Health Professional … …