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- 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)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
Event
Join us on Wednesday, May 25, as scholars and scientists answer audience questions and address the complexities surrounding historical and present-day eugenics and scientific racism in the context of existing and developing genetic and genomic screening technologies.
… minimal-risk options for prenatal genetic screening and diagnosis for various conditions (variations) such as … to better plan for the specific care needs of their child and to promote the wider goals of public health. Their … sequencing has significantly more complexities, risks and potential benefits than established prenatal and newborn …
Educational Resources
Carrier screening is a genetic test performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children.
… disease or trait. A carrier has inherited a normal and a variant allele for a disease- or trait-associated gene, …
Media Availability
Researchers find that more than 80 percent of mouse genes had variations in the nearby regulatory DNA that affects gene activity.
… … Media Availability Complex traits such as height and susceptibility to common diseases like diabetes and heart disease usually stem from a complicated mix of genetics and lifestyle. While changes in many genes …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… Genomics Research Consortium will include five centers and a data coordination site. … The National Institutes of … of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic …
Event
NHGRI hosted a webinar to provide an overview of the Investigator-Initiated Research on Genetic Counseling Processes and Practices Request for Applications (RFA-HG-20-048 and RFA-HG-20-049).
… may ask additional questions during the Webinar, and NIH staff will respond to those questions. Following the Webinar, a summary of questions and answers will be added to the current frequently asked … are encouraged to view the frequently asked questions and summary of questions and answers after the Webinar. … …
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… or DVT) or a clot that travels through the bloodstream and lodges in the lungs (pulmonary embolism, or PE). Factor V … developing abnormal blood clots. Information courtesy of: Genetics Home Reference … The symptoms of factor V Leiden … 12. Additional Resources for Factor V Leiden Thrombophilia Genetics Home Reference: Factor V Leiden Thrombophilia …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… for centuries, but has only gained scientific recognition and support in the past 30 years. … Trimethylamine is the … it is recommended that you work with a medical or genetics professional to contact the laboratories for further … United States. Children's Hospital Colorado Biochemical Genetics Lab Phone: 720-777-6711 Contact: Lab Client Services …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… Program trains students to conduct social, behavior and policy research in the field of genetic counseling and … testing. Students are exposed to cutting-edge molecular genetics research at  the NIH, providing them a rich training … international summer rotation is an opportunity to see how genetics is practiced in another country and expand the …
Educational Resources
The instructions in a gene that tell the cell how to make a specific protein.
… bases of DNA: adenine (A), cytosine (C), guanine (G) and thymine (T) — in various ways to spell out three-letter …