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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
Genetic Disorders
Factor V Leiden thrombophilia is an inherited disorder of blood clotting.
… 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 Genetics Home Reference: F5 gene The American Heart …
Genetic Disorders
Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide.
… 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 … Work in conjunction with a health care provider or genetics professional to contact the laboratory and learn …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… 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 … For some, the summer is an opportunity to rotate at a genetics clinic near their home. Rotations outside of the …
Educational Resources
The instructions in a gene that tell the cell how to make a specific protein.
News Release
In a new large-scale genetic analysis, National Institutes of Health (NIH) scientists have found set of small RNA molecules, called microRNAs, in human pancreatic cells that are strongly associated with type 2 diabetes.
The Genomics Landscape
In May 4, 2023 edition of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., details a report released by the National Academies of Science, Engineering, and Medicine, that provided a series of recommendations for using population descriptors in future genetics and genomics studies.
… data collection and analysis. Applications for the Human Genetics Scholars Initiative (HGSI) , a program that aims to advance diversity, equity, and inclusion in the human genetics and genomics workforce, began to be accepted on … descriptors such as race, ethnicity, and ancestry in genetics and genomics research. The committee released a …
Careers and Training
Frequently Asked Questions about the Genetic Counseling Training Program.
… the program have a strong background in biology or genetics? No. Many successful applicants have backgrounds in … applicants have successfully completed courses in genetics and biochemistry prior to enrolling. Many successful … to have completed the required courses in biochemistry and genetics in order to apply? We require that students entering …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program prepares students for a M.S in Genetic Counseling from Johns Hopkins Bloomberg School of Public Health.
… and rotations in the areas of genetic counseling, human genetics, public health, public policy, research methodology, …
Staff
Katie Lewis is a genetic counselor in the NHGRI Genomic Services Research Program (GSRP).
… Katie worked at the Kennedy Krieger Institute’s Center for Autism and Related Disorders. She has worked at the NIH as a …
Genetic Disorders
Inborn errors of metabolism are disorders that cause a block in a metabolic pathway leading to clinically significant consequences.