Genetics
New test for rare disease identifies children who may benefit from simple supplement
The nutritional supplement has dramatically improved the lives of other children with the rare metabolic disorder.
Jun 4, 2020
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Page 3 - News tagged with rare gene mutations
Oncology & Cancer
Inherited mutated gene raises lung cancer risk for women, those who never smoked
People who have an inherited mutation of a certain gene have a high chance of getting lung cancer—higher, even, than heavy smokers with or without the inherited mutation, according to new findings by cancer researchers ...
Mar 24, 2014
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Neuroscience
Finding a cause of neurodevelopmental disorders
Neurodevelopmental disorders arising from rare genetic mutations can cause atypical cognitive function, intellectual disability, and developmental delays, yet it is unclear why and how this happens. Scientists suspected a ...
Jul 30, 2019
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Genetics
Study identifies new gene mutation associated with defective DNA repair and Fanconi anemia
Fanconi anemia is a rare genetic disease characterized by hematologic symptoms that include low platelet count and unusually large red blood cells. Mutations in nearly 20 genes have been identified as causative for Fanconi ...
Jul 10, 2017
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Neuroscience
Rare mutations found to increase risk of schizophrenia and shortened school stays
(Medical Xpress)—Two teams of researchers looking to better understand what happens to people born with certain rare genetic mutations have found a link between an increased risk of schizophrenia and how long such people ...
Genetics
About 14% of cerebral palsy cases may be tied to brain wiring genes
In an article published in Nature Genetics, researchers confirm that about 14% of all cases of cerebral palsy, a disabling brain disorder for which there are no cures, may be linked to a patient's genes and suggest that many ...
Sep 28, 2020
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Genetics
Mutations impair childhood growth and development by disrupting organization of chromosome pairs
Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide. Focusing on the cohesin complex, a group of proteins forming a ...
May 29, 2012
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Genetics
Researchers find a single, surprising gene behind a disorder that causes intellectual disability
Scientists have found the genetic root of a disorder that causes intellectual disability, which they estimate affects as many as one in 20,000 young people. And they hope their discovery leads to a new diagnosis that can ...
Jun 2, 2024
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Genetics
Algorithm identifies networks of genetic changes across cancers
The algorithm, called Hotnet2, was used to analyze genetic data from 12 different types of cancer assembled as part of the pan-cancer project of The Cancer Genome Atlas (TCGA). The research looked at somatic mutations—those ...
Dec 15, 2014
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Genetics
New genetic analysis method holds promise for understanding causes of disease
(Medical Xpress)—University of Michigan School of Public Health researchers have developed a new method for identifying rare gene variants, which scientists now believe are more informative for human disease studies than ...
Dec 17, 2013
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