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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Developmental Genotype-Tissue Expression (dGTEx)1
Leadership Initiatives
The Genomics and Health Disparities Interest Group provides a forum to connect individuals from different scientific disciplines across the National Institutes of Health (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics and health disparities research, as well as provide opportunities for professional development, networking and community engagement.Â
… (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics and health disparities research, as … (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics and health disparities research, as … (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics and health disparities research, as …
Event
As part of the tenth anniversary of the National Human Genome Research Institute’s (NHGRI) History of Genomics Program, members from The Amaral Lab from Northwestern University will present a virtual lecture on how they have used the program’s archive to better understand how a major funding institute like NHGRI has helped shape genomics.
… History of Genomics Program, the Institute will host a virtual lecture - The history of genomics told through … fascinating discoveries. Request an Accommodation … Virtual … The history of genomics told through machine … The Amaral Lab from Northwestern University will present a virtual lecture on how they have used the program’s archive …
Event
Several NIH Institutes, Offices and Centers partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the recommendations from the National Academies of Sciences, Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, with regards to legacy genomic data. 
… Offices, and Centers* partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the … Report (PDF) Workshop Materials Request an Accommodation … Virtual … Population Descriptors for Legacy Genomic Data: … Offices and Centers partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the …
Educational Resources
A stop codon is a trinucleotide sequence within a messenger RNA (mRNA) molecule that signals a halt to protein synthesis.
… Acids, Cell, Codon, Deoxyribonucleic Acid (DNA), Gene Environment Interaction, Genetic Code, Messenger RNA (mRNA), …
The Genomics Landscape
In the June 2020 edition of The Genomics Landscape, NHGRI Director Eric Green details NHGRI's new Diversity in Genomics Workforce Initiative.
… in giving remarks about this achievement. …  The ELSI Virtual Forum (#ELSIvirtual) will be held on June 15-16, 2020. This virtual meeting is organized as a free online event and will … COVID-19 vaccine candidates is key, NIH experts say Pop-up testing lab shows volunteer spirit against deadly pandemic …
Genetic Disorders
Down syndrome is a chromosomal condition related to chromosome 21.
… have Down syndrome. It is recommended that thyroid level testing be performed at least yearly. Some infants with Down … … Down Syndrome, Chromosome 21, Genetic Disorder, Prenatal Testing, Newborn Testing, Mental Disability, Trisomy 21, Mosaic Down Syndrome …
About NHGRI
The Genomic Medicine Working Group explores and advises on issues related to the adoption of genomic medicine.
… Personalized Medicine, Genomics In The Clinic, Prenatal Testing, Genetic Testing … The Genomic Medicine Working Group explores and …
Educational Resources
A birth defect is an abnormality present at birth.
… … Congenital Defect, Genetic Mutation, Pregnancy, Newborn Testing … A birth defect (also called a congenital defect) is …
News Release
NIH is awarding $5.4 million in first-year funding to establish a new program that supports the integration of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic data are available in clinical settings, and learning health systems present an opportunity to translate this evidence quickly and directly into improvements in medical care.
… into existing learning health systems. As genomic testing becomes increasingly common, more and more genomic … of genomic medicine. These could include implementing testing for hereditary diseases or using genomic information … of genomics into learning health systems. As genomic testing becomes increasingly common, more and more genomic …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… medical, social and ethical decisions surrounding genetic testing. Provide support and information to help a person make a decision about testing. Interpret the results of genetic tests and medical … a genetic counselor or genetic nurse may help you with testing decisions and support issues, a medical geneticist …