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- Ethical, Legal and Social Implications (ELSI) Research Program2
- 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)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
EDUCATION
The Talking Glossary features more than 250 common genetic terms pronounced and explained in an easy-to-understand way by leading scientists and professionals at the National Human Genome Research Institute.
… Loading... … Talking Glossary of Genomic and Genetic Terms … The Talking Glossary features more than 250 common genetic terms pronounced and explained in an … … The Talking Glossary features more than 250 common genetic terms pronounced and explained in an …
Educational Resources
In genomic imprinting the ability of a gene to be expressed depends upon the sex of the parent who passed on the gene.
… Genetic Imprinting … In genomic imprinting the ability of a … upon the sex of the parent who passed on the gene. … Genetic Imprinting, DNA Sequence, Genes, Family Health …
Clinical Studies
The IDENTIFY Study is a study exploring how prenatal blood test results for the baby might also detect cancer in the mother.
… received abnormal or non-reportable non-invasive prenatal testing (NIPT) results. had a follow-up test (an ultrasound … Women . J Clin Oncol ., August 1, 2022 … Amy Turriff, M.S. Genetic Counselor Email: turriffa@mail.nih.gov Phone: (301) …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… in which NHGRI is centrally involved, such as the Genetic Counseling Training Program that is collaboratively … physicians to diagnose, manage, and counsel patients with genetic disorders. The program exposes its trainees to … reproductive technologies and pre-implantation genetic testing. The training program is open to those who have …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be …
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 …
Research at NHGRI
The NHGRI Office of Laboratory Animal Medicine promotes the humane care and use of animals in biomedical and behavioral research, teaching, and testing.
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… in biomedical and behavioral research, teaching, and testing. … Because animals are an essential component of the … in biomedical and behavioral research, teaching, and testing. … The NHGRI Office of Laboratory Animal Medicine … in biomedical and behavioral research, teaching, and testing. ​ … Research at NHGRI …
Event
On December 7, 2022, NHGRI will host a webinar to discuss key findings from the Human Genetics and Genomics Workforce Survey Report.
… primary areas of work for employed respondents include genetic counseling, research and academia. Women made up the …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… the fetal transcriptome to develop new therapies for genetic disorders that can be given prenatally. Dr. Bianchi … of fetal cell microchimerism and noninvasive prenatal testing using DNA sequencing of fetal and placental DNA … pathways that are affected by these different genetic, developmental and environmental conditions, and …
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
… … National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model … NHGRI senior historian. “As cognitive treatments based on genetic models become more feasible in the future, …  … About NHGRI and NIH … Researchers study enhanced genetic animal model of Down syndrome … NIH researchers …