An international team of scientists, including researchers from Baylor College of Medicine, has discovered mutations of gene IRF2BPL that are associated with a previously undiagnosed neurological disorder in seven unrelated ...
Jul 26, 2018
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107
Researchers have identified 57 genetic variations of a gene strongly associated with declines in blood oxygen levels during sleep. Low oxygen levels during sleep are a clinical indicator of the severity of sleep apnea, a ...
Oct 24, 2019
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17
An analysis of nearly 3,800 colorectal cancer patients—the largest germline risk study for this cancer to date—reveals opportunities for improved risk screening and, possibly, treatment.
Feb 23, 2018
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A large international research team has discovered a new genetic cause for a severe, difficult-to-treat childhood epilepsy syndrome. Spontaneous mutations in one gene disrupt the flow of calcium in brain cells, resulting ...
Oct 18, 2018
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Inherited mutations in the BRCA1 gene can significantly increase a person's risk of breast and ovarian cancer—but not every mutation in the gene is harmful. To better equip patients and their doctors to understand and manage ...
Jun 3, 2022
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33
Research led by Ludwine Messiaen, Ph.D., professor of genetics at the University of Alabama at Birmingham, shows that missense mutations in a cluster of just five codons in the NF1 gene are an important risk factor for severe ...
Dec 28, 2017
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A Melbourne led study has uncovered a new neurodegenerative disorder in which children experience developmental regression and severe epilepsy.
Mar 20, 2020
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265
Scientists at Sanford Burnham Prebys Medical Discovery Institute and Radboud University Medical Center in the Netherlands have identified mutations in a gene called CNOT1 that affect brain development and impair memory and ...
Jun 24, 2020
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A Stanford professor of genetics discusses the thinking behind a formal policy statement endorsing the idea that researchers continue editing genes in human germ cells.
Aug 4, 2017
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15
A child's educational success depends on the genes that they haven't inherited from their parents, as well as the genes they have, according to a new study led by UCL researchers.
Aug 19, 2021
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