A mutation in a protein regulating natural killer (NK) cells' function is at the root of immune deficiency in some people with a rare genetic condition characterized by cognitive and developmental delay, seizures, and other ...
Apr 9, 2024
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An innovative gene therapy may help treat a severe and fatal developmental epilepsy syndrome that affects children. Researchers hope that this genetic therapy can also be adapted to other types of genetic epilepsies and think ...
Jun 22, 2023
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The Department of Neurology at Niigata University has developed a new in silico method for evaluating the pathogenicity of missense variants using AlphaFold2 (MOVA).
Jun 14, 2023
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The biology underpinning a rare genetic mutation that allows its carrier to live virtually pain-free, heal more rapidly and experience reduced anxiety and fear, has been uncovered by new research from UCL.
May 23, 2023
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Despite the increasing use of genomic sequencing in clinical practice, interpreting rare genetic mutations, even among well-studied disease genes, remains difficult. Current predictive models are useful for interpreting those ...
Apr 21, 2023
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Scientists at the National Eye Institute (NEI) have developed a zebrafish model of NEDBEH—a rare genetic disorder that can cause coloboma, where parts of the eye are missing due to developmental defects. The model provides ...
Jan 12, 2023
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Researchers are finding more genes directly associated with cleft lip and palate.
Jan 11, 2023
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A collaborative study involving Baylor College of Medicine, the University of Cambridge and the University of Exeter Medical School reveals a new gene associated with obesity and maladaptive behavior. The evidence shows that ...
Dec 19, 2022
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A rare but potentially debilitating brain disorder finally has a definitive cause, thanks to research teams working on opposite sides of the globe.
Sep 15, 2022
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Using a new imaging technique, researchers from the National Eye Institute have determined that retinal lesions from vitelliform macular dystrophy (VMD) vary by gene mutation. Addressing these differences may be key in designing ...
Jul 28, 2022
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