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News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… reached this conclusion after identifying 59 genes or gene regions linked to canine athletics, including those with roles in endurance, heart function, blood flow and pain perception. What terriers … researchers have identified about 200 germline mutations - gene variants that can be passed on to subsequent generations …
Research Funding
The Genomics of Gene Regulation project develops methods to construct predictive, accurate gene regulatory network models using genomic data.
… in the RFA, individual projects collect genomic data on gene expression, as well as surrogate markers of regulatory … in different cell fates or cell states. They use the gene expression and functional element data to construct gene regulatory network models, taking advantage of the …
News Release
NIH has awarded grants of more than $28 million aimed at deciphering the language of how and when genes are turned on and off.
… awards emanate from the recently launched Genomics of Gene Regulation (GGR) program of the National Human Genome … disease." With these new grants, researchers will study gene networks and pathways in different systems in the body, … The resulting insights into the mechanisms controlling gene expression may ultimately lead to new avenues for …
Talking Glossary
A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an individual an increased risk for developing cancer
… Cancer-Susceptibility Gene … A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an individual an …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… in understanding the elevated cancer risk associated with gene therapy. They conducted research on mice with a rare … humans, hoping their findings may eventually help improve gene therapy for humans. Researchers at the National Human … Journal of Clinical Investigation . … "Effective and safe gene therapies have the potential to dramatically reverse …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… reporting to physicians. Published papers reporting gene-disease associations vary widely in their study design … the scientific evidence from research papers to place gene-disease relationships into “definitive,” “strong,” … for the clinical genomics community regarding which gene-disease pairs have sufficient evidence to be used …
News Release
Grants are awarded to GTEx project to explore human gene expression and regulation in different tissues, and how genomic variation modulates that expression.
… plays in modulating that expression. … An Atlas of Human Gene Expression The GTEx awards will contribute to a resource … inherited spelling changes in the DNA code - may influence gene activity and lead to disease. The grants will add data … current GTEx project in assessing genomic variation and gene expression," explained Simona Volpi, Pharm.D., Ph.D., …
Fact Sheet
Understanding gene therapy for sickle cell disease
… Now, researchers are developing new and emerging gene therapies to treat sickle cell disease. To help navigate … for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which is led by NHGRI in partnership … welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or …
News Release
Researchers funded by NIH have completed a detailed atlas documenting stretches of human DNA that influence gene expression.
… documenting the stretches of human DNA that influence gene expression - a key way in which a person's genome gives … scale used by GTEx that enabled researchers to study how gene expression in the liver might be different than in the … resource that integrates the complexity of how our genomes function in biologically meaningful ways. … A One-of-a-Kind …
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 … Research Branch that focused on understanding genome function and gene pathways in development and disease. As …