Scientists from Cardiff University have discovered new links between the breakdown in brain cell development and the risk of schizophrenia and other psychiatric disorders.
Jan 14, 2022
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A team of Northwestern Medicine scientists led by Ali Shilatifard, Ph.D., the Robert Francis Furchgott Professor and chair of Biochemistry and Molecular Genetics, has identified the molecular mechanisms of ASXL1 mutations ...
May 27, 2021
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Impaired intelligence, movement disorders and developmental delays are typical for a group of rare diseases that belong to GPI anchor deficiencies. Researchers from the University of Bonn and the Max Planck Institute for ...
Jan 7, 2021
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Scientists at the Stowers Institute for Medical Research have shown that a dysfunctional placenta can play a previously unrecognized role during the earliest stages of development in mouse models of Cornelia de Lange syndrome. ...
Jun 16, 2020
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More than 100 genes appear to be involved in autism spectrum disorders (ASD), according to the largest genetic study of the condition to date.
Jan 23, 2020
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The largest study of its kind into childhood developmental disorders has discovered that jumping genes cause genetic changes in some patients with undiagnosed neurodevelopmental diseases. The research from the Wellcome Sanger ...
Oct 11, 2019
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An international team of scientists and doctors has identified a family of five new genetic diseases which are likely to affect more than 1 in 5000 children.
Jan 8, 2018
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In a study published today in PLoS ONE, a team of researchers reports solving a medical mystery in a day's work. In record-time detective work, the scientists narrowed down the genetic cause of intellectual disability in ...
Apr 17, 2017
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The team behind the Deciphering Developmental Disorders (DDD) Study, one of the world's largest nationwide rare disease genome-wide sequencing initiatives, have developed a novel computational approach to identify genetic ...
Oct 5, 2015
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A small freshwater fish found in many tropical aquariums may hold the key to unlocking one of the leading causes of respiratory diseases in humans.
Sep 15, 2014
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