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 study published in Gastroenterology provides novel genetic insights into dietary preferences and opens the possibility of targeting SI to selectively reduce sucrose intake at the population level.
Nov 12, 2024
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RCCS San Raffaele Scientific Institute in Milan researchers have discovered that hematopoietic stem cells (HSCs) adapt their lineage commitment during gene therapy based on the underlying genetic disease.
Interleukin-10 (IL-10) is an anti-inflammatory protein that crucially controls intestinal immunity. Children with genetic defects in IL-10, or its receptors, suffer from a severe form of inflammatory bowel disease (IBD) that ...
Aug 2, 2024
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The world's largest study of cerebral palsy (CP) genetics has discovered genetic defects are most likely responsible for more than a quarter of cases in Chinese children, rather than a lack of oxygen at birth as previously ...
May 3, 2024
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Approximately one in seven couples face difficulties conceiving a child naturally. Half of these cases are due to male infertility—either caused by the complete absence or low number of mature sperm. In today's clinical ...
Apr 12, 2024
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Studying genes in families with a propensity for certain diseases has led to many critical advances in medicine, including the discovery of statins in family members who suffered heart attacks at an early age.
Sep 19, 2023
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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
