Search Results
News Release
NIH researchers have created a data resource show how differences in an individual's genome can affect gene activity and contribute to disease.
… Genotype-Tissue Expression (GTEx) project have created a new and much-anticipated data resource to help establish how … differences in an individual's genomic make-up can affect gene activity and contribute to disease. The new resource will enable scientists to examine the underlying …
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 … of Genome Sciences. "The GGR program aims to develop new ways for understanding how the genes and switches in the … disease." With these new grants, researchers will study gene networks and pathways in different systems in the body, …
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 … researchers have identified about 200 germline mutations - gene variants that can be passed on to subsequent generations … Comparative Genomics Branch . The researchers relied on a new global database of the whole-genome sequences of 722 dogs …
News Release
NIH researchers demonstrated that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1.
… of Health (NIH) researchers have demonstrated in mice that gene therapy may be the best method for correcting the single faulty gene that causes Niemann-Pick disease, type C1 (NPC1). The gene therapy involved inserting a functional copy of the NPC1 … has no cure. The disease occurs when a faulty housekeeping gene fails to remove cell waste, like lipids and cholesterol. …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… “search the genome” approach to reveal how mutations in a gene called UBA1 are associated with inflammatory diseases … the National Institutes of Health (NIH) have discovered a new inflammatory disorder called vacuoles, E1 enzyme, … syndrome (VEXAS), which is caused by mutations in the UBA1 gene. VEXAS causes symptoms that included blood clots in …
News Release
NIH will award nearly $80 million to support the establishment of the Mendelian Genomics Research Consortium and the development of novel methods and approaches that help researchers identify the genetic causes of single-gene diseases.
… help researchers identify the genetic causes of single-gene diseases. Over 400 million people worldwide have been … data sharing and collaboration, and focus on applying new technologies, genome-sequencing strategies and analytical … research community to perform more robust Mendelian gene discovery projects. The new clinical centers will be led by: …
News Release
NIH researchers identified a novel role for a gene known as heat shock protein 60, finding it is critical in tissue regeneration and wound healing.
… of Health researchers have identified a novel role for a gene known as heat shock protein 60 ( Hsp60 ), finding that … "This study proposes an unusual role for a well-known gene," said Shawn Burgess, Ph.D., head of NHGRI's … today in the journal npj Regenerative Medicine . "This gene is found in every organism from bacteria to man. We have …
Fact Sheet
Understanding gene therapy for sickle cell disease
… sickle cell disease. Now, researchers are developing new and emerging gene therapies to treat sickle cell disease. To help navigate these new therapies, more than 50 scientists, physicians, patients … welcomes your feedback about the sickle cell disease gene therapy resources. Please email your comments or …
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.
… Twenty years ago, The New York Times published an article about three “apparently … heart rhythms, or arrhythmias. Much like the cases in the New York Times article, people with long QT syndrome can have … reporting to physicians. Published papers reporting gene-disease associations vary widely in their study design …
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 … "Effective and safe gene therapies have the potential to dramatically reverse …