Large-scale genetic analysis has helped researchers uncover the interplay between cancer-driving genetic mutations and inherited genetic variants in a rare type of blood cancer.
Jan 17, 2024
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84
UCLA Health researchers have published the largest-ever study of families with at least two children with autism, uncovering new risk genes and providing new insights into how genetics influence whether someone develops autism ...
Jul 31, 2023
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10
A common, spontaneous mutation in blood stem cells, which has been linked to higher risks of blood cancer and cardiovascular disease, may promote these diseases by altering the stem cells' programming of gene activity and ...
Sep 22, 2022
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A multi-institutional study has discovered spontaneous mutations in RNF2 (RING2) gene as the underlying cause of a novel neurological disorder. This Undiagnosed Diseases Network (UDN) study was led by Dr. Shinya Yamamoto, ...
Jul 8, 2021
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Lennox-Gastaut syndrome is a severe early-onset seizure disorder that includes cognitive and behavioral abnormalities. Its pathophysiology is largely unknown.
Jun 26, 2020
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1
Approximately 30 per cent of patients with epilepsy do not respond to anti-epileptic drugs. In these cases, all neurologists can do is attempt to find the right combination of medication through trial and error. A treatment ...
Nov 6, 2017
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106
A mutated gene in patients lacking a nose has been identified by an international team, a first step toward understanding nose development and possible therapies for another condition.
Sep 15, 2017
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9
"Doctor, what caused my cancer?" For doctors, this question is often perplexing. Some of the population risk factors are known, but when it comes to specific cases, only assumptions can be made. However, scientists have a ...
Jul 19, 2017
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For the first time, researchers at the Wellcome Trust Sanger Institute and University of Leeds have proved that gene variants associated with red hair, pale skin and freckles are linked to a higher number of genetic mutations ...
Jul 12, 2016
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144
The types of gene mutations that contribute to autism are more diverse than previously thought, report researchers at University of California, San Diego School of Medicine in the March 24 online issue of The American Journal ...
Mar 24, 2016
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