Search Results
Talking Glossary
La interacción genes–ambiente se refiere a interrelación de los genes (y en términos más amplios, de la función del genoma) y el entorno físico y social.
… Interacción genes-ambiente … La interacción genes–ambiente se refiere a interrelación de los genes (y en … influence the expression of phenotypes. For example, most human traits and diseases are influenced by how one or more …
News Release
Baylor College of Medicine. Houston and the Medical College of Wisconsin, Milwaukee will be providing DNA sequencing for the Undiagnosed Diseases Network.
… six UDN grants that will fund studies of the function of genes thought to play roles in particular patients' … Christine M. Eng, M.D., professor of molecular and human genetics and medical director of the DNA Diagnostic … variants in patients' genome that may be the cause of a disease. Genome sequencing is an increasingly fast and …
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
… gene therapy. They conducted research on mice with a rare disease similar to one in humans, hoping their findings may … gene therapy for humans. Researchers at the National Human Genome Research Institute (NHGRI), part of NIH, … not insert where it would elevate the expression of nearby genes and it did not cause liver cancer. The researchers …
Talking Glossary
A cancer-susceptibility gene is a gene that, when changed (or mutated), gives an individual an increased risk for developing cancer
… have inherited mutations in certain cancer-susceptibility genes have a lifetime risk of cancer that is significantly …
News Release
NHGRI researchers identified 59 genes or gene regions linked to canine athletics.
… athletes and terriers are plucky supermodels. National Human Genome Research Institute (NHGRI) researchers reached this conclusion after identifying 59 genes or gene regions linked to canine athletics, including … it's difficult to identify gene variants' influence on human populations over time, NHGRI researchers turned to …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.
… Tay-Sachs disease is a fatal genetic disorder that results in … progressive destruction of the nervous system. … Tay-Sachs disease (TSD) is a fatal genetic disorder, most commonly … all have two copies of this gene. If either or both Hex-A genes are active, the body produces enough of the enzyme to …
News Release
In honor of Rare Disease Day, experts from the UDN turned to Reddit to answer questions during an "Ask me Anything."
… Sheena Faherty, Ph.D. … On March 3, 2017, in honor of Rare Disease Day , a day celebrated worldwide to raise awareness … or cell biology, currently or potentially related to a human disease. - William Gahl The Reddit community was also … involves genome or exome sequencing to identify candidate genes that may be causing the patient's disease. Based on the …
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.
… The National Human Genome Research Institute is proud to help support the … the stunning breakthroughs in understanding the impact genes play on heredity, disease and behavior. … The Gene: An Intimate History … The …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… therapies for a rare, genetic condition called Gaucher disease. Researchers from the National Human Genome Research Institute (NHGRI) and the National … cultured cells to exhibit the signature traits of the disease. Using this model, they have now tested a drug …
News Release
NHGRI researchers investigated the Behcet's disease using Illumina's Immunochip.
… Jeannine Mjoseth … Behçet's disease is a disease that destroys blood vessels through systemic … destroying inflammation of the eyes. Research suggests the disease develops due to pathogen exposure, along with a mix …