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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. …
Educational Resources
A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms.
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 …
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 …
Educational Resources
Deletion is a type of mutation involving the loss of genetic material.
Educational Resources
Substitution is a type of mutation where one base pair is replaced by a different base pair.
Talking Glossary
LOH (short for “loss of heterozygosity”) refers to a type of mutation that results in the loss of one copy of a segment of DNA (typically containing a gene or group of genes).
… of one copy of a segment of DNA (typically containing a gene or group of genes). … of one copy of a segment of DNA (typically containing a gene or group of genes). For most parts of the genome, human … of one copy of a segment of DNA (typically containing a gene or group of genes). …
Community Outreach
NHGRI is proud to help support the PBS documentary, “Ken Burns presents The Gene: An Intimate History,” based on the book by Siddhartha Mukherjee, M.D.
… help support the PBS documentary, “Ken Burns presents The Gene: An Intimate History,” based on the book by Siddhartha Mukherjee, M.D. The Gene aired April 7 and 14 at 8:00 p.m. ET. The series, based … In this fun animated series, the gene’s complex mechanisms are explored in simple ways. …
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 … of the genome that contributes to the differences in gene expression between genes and between individuals. …
Virtual Exhibit
The Gene Sweepstakes — or GeneSweep as it became popularly known — was a three-year-long, sweepstakes-style contest organized by British bioinformatician Ewan Birney, Ph.D., of the European Bioinformatics Institute. Scientists participated in the contest by betting on the total number of protein-coding genes that would be identified in the human genome sequence generated by the Human Genome Project.
… Collins, M.D., Ph.D. included a section dedicated to the “Gene Sweepstake,” pointing out that the basis of GeneSweep … was scientifically unclear — that is, what exactly is a gene? At a basic level, a gene is considered to be a region of the genome that codes …