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- Ethical, Legal and Social Implications (ELSI) Research Program4
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
Educational Resources
A genetic marker is a DNA sequence with a known physical location on a chromosome.
… Genetic Marker … A genetic marker is a DNA sequence with a known physical location on a chromosome. … Genetic Marker, DNA Sequence, Chromosome, Genetic Disease, Inheritance … A genetic marker is a DNA …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions are under … Human Genome Research Institute (NHGRI). … This list of genetic, orphan and rare diseases is provided for … purposes only and is by no means comprehensive. … A genetic disorder is a disease caused in whole or in part by a …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study is exploring the genetic factors that contribute to ADHD, with the hope of … and research studies have suggested that there may be a genetic component to this disorder. Individuals diagnosed …
Educational Resources
Genetic drift is a mechanism of evolution. It refers to random fluctuations in the frequencies of alleles from generation to generation due to chance events.
… Genetic Drift … Genetic drift is a mechanism of evolution. It refers to … from generation to generation due to chance events. … Genetic Drift, Evolution, Population Genetics, Genes … Genetic drift is a mechanism of evolution characterized by …
Event
On October 20, 2022, NHGRI and the Smithsonian National Museum of African American History and Culture (NMAAHC) continue their collaboration to present, "Historically Speaking: Exploring Diversity in the Fields of Genomics and Biomedical Sciences", a program that explores the experiences of renowned African American biomedical researchers and physicians.
… overcame in their careers, and share how they promote more diversity in their fields. All times are Eastern Time (ET). … Avenue, NW … Historically Speaking: Exploring Diversity in the Fields of Genomics and Biomedical Sciences … … to present, "Historically Speaking: Exploring Diversity in the Fields of Genomics and Biomedical Sciences", …
News
NHGRI recognizes leaders in diversity, equity, inclusion and accessibility in the genomics workforce
NHGRI is honoring three individuals for their achievements in enhancing diversity, equity, inclusion and accessibility (DEIA) in the genomics workforce. These individuals are the first recipients of NHGRI’s Outstanding Award for Enhancing DEIA in the Genomics Workforce, which was launched this year and will be awarded annually.
… three individuals for their achievements in enhancing diversity, equity, inclusion and accessibility (DEIA) in the … said Lorjetta Schools, a policy analyst in the Training, Diversity and Healthy Equity Office at NHGRI who coordinated … encourages others to follow their example of making diversity, equity, inclusion and accessibility important …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… used facial recognition software to diagnose a rare, genetic disease in Africans, Asians and Latin Americans. … … . "Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations." A young boy … Content … Facial recognition software helps diagnose rare genetic disease … NHGRI researchers have successfully used …
For Patients and Families
​Genetic tests may be used to identify increased risks of health problems, to choose treatments, or to assess responses to treatments.
… Genetic testing uses laboratory methods to look at your … you inherit from your mother and your father. … Genetic tests may be used to identify increased risks of … to treatments. … There are many different types of genetic tests. Genetic tests can help to: Diagnose disease …
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.
… Polygenic risk scores, often referred to as PRS, are a genetic estimate of a person’s risk for specific diseases. …
Educational Resources
A genetic map is a type of chromosome map that shows the relative locations of genes and other important features.
… Genetic Map … A genetic map is a type of chromosome map that shows the … locations of genes and other important features. … Genetic Map, Chromosome, Genes, Linkage Analysis, Family Health History … A genetic map (also called a linkage map) shows the relative …