There are currently no available treatment options for more than 90% of the approximately 7,000 rare diseases identified to date. However, if these conditions result from correctable cellular or genetic defects, cell and ...
Oct 20, 2025
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When immune cells strike, precision is everything. New research reveals how natural killer and T cells orchestrate the release of toxic granules—microscopic packages that destroy virus-infected or cancerous cells.
Oct 17, 2025
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A team led by UT Southwestern Medical Center scientists has identified a specific stage of neurodevelopment when differentiating neural cells produce fewer ribosomes, which are responsible for making proteins. This subsequent ...
Aug 4, 2025
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Researchers at the University of Colorado Anschutz Medical Campus have discovered that amniotic fluid stem cells can be safely collected from vaginal fluid after childbirth rather than relying on more invasive methods that ...
Jul 15, 2025
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In a scientific first, researchers from around 29 universities and institutions across North America have teamed up to create a large, versatile, and effective arsenal of new biological tools that will play a critical role ...
May 21, 2025
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For patients with cancers harboring certain genetic defects, the first-in-class targeted therapy RO7589831, which targets the DNA repair enzyme Werner helicase, demonstrated early signals of efficacy and was generally well-tolerated, ...
Apr 28, 2025
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New studies in rats suggest the drug reserpine, approved in 1955 for high blood pressure, might treat the blinding disease retinitis pigmentosa. No therapy exists for this rare inherited disease, which starts affecting vision ...
Apr 15, 2025
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Men's semen quality is associated with how long they live, according to a study of nearly 80,000 men, published in Human Reproduction.
Mar 4, 2025
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Sucrase-isomaltase (SI) is an intestinal enzyme critical for the digestion of dietary carbohydrates, particularly sucrose and starch. Previous studies from the Gastrointestinal Genetics team at CIC bioGUNE—BRTA and LUM ...
Feb 17, 2025
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Pregnancy is accompanied by profound changes in the body. Among other things, these affect the energy metabolism and the immune system. But the gut microbiome, i.e., the composition of the microbial community in the gut, ...
Jan 27, 2025
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A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions.
A genetic disorder may or may not be a heritable disorder. Some genetic disorders are passed down from the parents' genes, but others are always or almost always caused by new mutations or changes to the DNA. In other cases, the same disease, such as some forms of cancer, may be caused by an inherited genetic condition in some people, by new mutations in other people, and by non-genetic causes in still other people.
Some types of recessive gene disorders confer an advantage in certain environments when only one copy of the gene is present.
This text uses material from Wikipedia licensed under CC BY-SA
