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- Developmental Genotype-Tissue Expression (dGTEx)1
- Genome Technology Program2
- Impact of Genomic Variation on Function (IGVF) Consortium3
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
… They found that Rohith had a mutation in both copies of a gene involved in a process that affects protein function …
Research at NHGRI
The NHGRI Cancer Genetics and Comparative Genomics Branch identifies and study genes that contribute to cancer susceptibility and progression.
… using whole-exome and whole-genome sequencing approaches, expression profiling methodologies (such as RNA-seq), and … with both population scientists and clinicians to define gene profiles that offer predictability in terms of cancer … microarray core that performs association and expression studies. In summary, the scientists of the Cancer …
News Release
In a study published in the journal Science, collaborators at NHGRI, the National University of Ireland, Galway, and the Whitney Laboratory for Marine Bioscience at the University of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those cells into germ cells in a cycle that can repeat endlessly.
… of Florida, Augustine, reported that activation of the gene Tfap2 in adult stem cells in Hydractinia can turn those … us to quickly narrow down the search for the specific gene or genes that tell Hydractinia’ s stem cells to become … structures of Hydractinia . They found that the Tfap2 gene was much more active in the sexual polyps than in the …
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… the U.S. Food and Drug Administration (FDA) approved two gene therapies for the treatment of sickle cell disease in … One of the new sickle cell treatments uses the CRISPR gene-editing system, a first for humans in the U.S.  NIH … leads The Democratizing Education for Sickle Cell Disease Gene Therapy Project , a collaborative effort that aims to …
News Release
The zebrafish is a powerhouse tool that helps researchers better understand the genes that are implicated in disease.
… of NHGRI's Zebrafish Core. "They can request any single gene or multiple genes in a pathway they want knocked out," … These findings can be specific mutations that cause the gene to lose its normal function, lead to alternate functions … on or off. The next question to ask is: Does the same gene when knocked out in fish mimic the disease in humans? By …
News Release
More research must be done to understand the interactions of ancient genes with modern environments.
… Africans and people of African descent. Mutations in the gene APOL1 , for example, evolved to offer protection against …
Profile
Dr. Pavan looks back on his career at NHGRI, highlights pivotal moments and shares his future plans in artistic woodworking and community mediation.
… transformative discoveries are made.  We would identify a gene from a screen or from observing a trait in an animal model, and then we explored what that gene did. That would often take us into a system or field … Branch that focused on understanding genome function and gene pathways in development and disease. As head of the …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease (SCD). … A First-of-its-Kind Study CRISPR-Cas9 is a gene editing technology that researchers have harnessed to … SCD mutation by removing and replacing it with a normal gene, while the second approach increases the production of …
News Release
NIH investigators have discovered that genomic switches of a blood cell are key to regulating the human immune system.
… called enhancers, which act like switches to control gene activities. Dr. O'Shea's team wondered if the … Content … NIH researchers reveal link between powerful gene regulatory elements and autoimmune diseases … NIH …