In a large-scale study published in Cell Genomics, researchers studied the DNA of more than 160,000 people who provided information on the frequency of their bowel movements. Genetic profiles and specific genes were identified, ...
Dec 8, 2021
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An international study of more than 50,000 people with irritable bowel syndrome (IBS) has revealed that IBS symptoms may be caused by the same biological processes as conditions such as anxiety. The research highlights the ...
Nov 8, 2021
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300
Researchers at the RIKEN Cluster for Pioneering Research (CPR) in Japan report that Kleefstra syndrome, a genetic disorder that leads to intellectual disability, can be reversed after birth in a mouse model of the disease. ...
Sep 21, 2021
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For the first time, Princess Margaret researchers have mapped out where and how leukemia begins and develops in infants with Down syndrome in preclinical models, paving the way to potentially prevent this cancer in the future.
Jul 8, 2021
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An analysis of electronic health records for 1.7 million Wisconsin patients revealed a variety of health problems newly associated with fragile X syndrome, the most common inherited cause of intellectual disability and autism, ...
Apr 12, 2021
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A genetic study has identified neuronal abnormalities in the electrical activity of cortical cells derived from people with a rare genetic disorder called 22q11.2 deletion syndrome. The overexpression of a specific gene and ...
Sep 28, 2020
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49
In a development that may finally offer hope to children with Dravet syndrome and their parents, a promising investigational new therapeutic appears to alter the destructive course of the deadly disease in a mouse model.
Aug 26, 2020
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Structures called primary cilia—which act like TV antennas for cells to detect signals—are present in fewer numbers in mice born with Fragile X syndrome, according to researchers from The University of Texas Health Science ...
Jul 30, 2020
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58
Yale pharmacology professor Barbara Ehrlich and her team have uncovered a mechanism driving a rare, lethal disease called Wolfram Syndrome and also a potential treatment. Their findings appear in the July 6 edition of Proceedings ...
Jul 16, 2020
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121
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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