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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)2
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomic Innovator Awards1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
- Multi-Omics for Health and Disease (Multi-Omics)1
News Release
As researchers uncover millions of DNA differences in genes, doctors struggle to know which of these inherited differences, called variants, really matter.
… of lab results with uncertain findings about whether a gene or variant is disease-causing," said Jonathan Berg, … In a special report appearing online May 27, 2015, in the New England Journal of Medicine , Drs. Rehm, Berg and other … That could guide treatment and diagnostic choices." To New England Journal co-author and clinical geneticist Sharon …
About Genomics
The Human Genome Project was an inward voyage of discovery led by an international team of researchers looking to sequence and map all the genes of our species.
… feats in history. The project was a voyage of biological discovery led by an international group of researchers … Project … The Human Genome Project was an inward voyage of discovery led by an international team of researchers looking … … The Human Genome Project was an inward voyage of discovery led by an international team of researchers looking …
News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments. The results were published in the journal … mysteries may now be solved when researchers discover new biological connections with the help of increasing … that the syndrome is caused by mutations in a single gene, they considered the possibility that multiple genes are …
Research Training
NHGRI T32 Frequently Asked Questions regarding preparing and submitting a new or renewal application.
… programs must be strongly justified. I plan to submit a new T32 predoctoral application. How many trainees can I request? Is there a limit? New and renewal genomic medicine training programs can request up to ten training positions per year. New genomic sciences training programs can request up to ten …
Infographic
An infographic that explains why we need a new human pangenome reference.
… genome missing because of gaps in the sequence. Recently, new types of DNA sequencing technologies have helped … in areas that were repetitive and harder to read. The new human pangenome reference is more comprehensive and … 8% of the human genome sequence, adding over 100 million new bases. … … …  A human pangenome reference better …
Health
The Method for Introducing a New Competency: Genomics (MINC) Toolkit assists those interested in integrating genomics into their practice.
… describes key successes. … The Method for Introducing a New Competency: Genomics (MINC) Toolkit assists those … recommended by leaders, just like you, who wanted to apply new scientific discoveries in patient care. … Method for Introducing a New Competency: Genomics (MINC) … Method for Introducing a …
Funding Opportunities
Funding for New and Early-Stage Investigators
… in the field of genomics. NHGRI welcomes applications from new and early-stage investigators through standard routes … Opportunities … Other Resources … Contacts … Funding for New and Early Stage Investigators … One essential element of … breakthroughs in the field of genomics. … Funding for New and Early-Stage Investigators … Funding Opportunities …
Fact Sheet
Gene therapy for sickle cell disease is available to you through FDA-approved therapies and through clinical trials.
… Gene therapy for sickle cell disease is available to you … there are a number of clinical trials for sickle cell gene therapy, the journey can be similar across all … … Step 2: Eligibility Your eligibility to participate in a gene therapy may depend on: Your age. Your diagnosis of …
Research at NHGRI
The Democratizing Education for Sickle Cell Disease Gene Therapy project developed patient-focused educational materials for the sickle cell community.
… disease is an inherited disorder caused by a change in the gene that produces hemoglobin, the red blood cells that carry … to help them make such decisions. To help navigate these new therapies, more than 50 scientists, physicians, patients … ancestries September 12, 2024 NHGRI project creates new educational materials for sickle cell disease community …
Event
On May 23, 2023, NHGRI will host a webinar: ELSI Research and the New NIH Data Management and Sharing (DMS) Policy.
… hosts an informational webinar, ELSI Research and the New NIH Data Management and Sharing (DMS) Policy , on … Webinar Links   … Virtual … ELSI Research and the New NIH DMS Policy Webinar … On May 23, 2023, NHGRI will host a webinar: ELSI Research and the New NIH Data Management and Sharing (DMS) Policy. … On May …