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Researchers Discover New Genetic Variants Responsible for Neurodevelopmental Disorders


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Researchers Discover New Genetic Variants Responsible for Neurodevelopmental Disorders
Researchers at the Center for Applies Genomics (CAG) at Children’s Hospital of Philadelphia (CHOP) have revealed how variants of a gene responsible for packing and condensing genetic material present a novel cause for certain neurodevelopmental disorders. The findings were published today in Science Advances.
Many neurodevelopmental disorders classified as intellectual disabilities are linked to certain genetic variants. Despite this, the underlying molecular mechanism for most of these patients is unknown. In particular, several neurodevelopmental disorders have been linked to pathogenic variants in genes responsible chromatin remodeling, or the rearrangement of the structure of chromosomes that allows for the transcription of DNA into directions to carry out necessary functions of the cells in the body. ....

United States , Hakon Hakonarson , Burroughs Wellcome Fund , National Institutes Of Health , Institutional Development Funds , National Eye Institute , Department Of Pathology , Laboratory Medicine , National Human Genome Research Institute , Diseases Program Victoria , Harbig Family Foundation , Murdoch Children Research Institute , Harvard Center , Blood Institute , National Heart , Victorian Government Operational Infrastructure Support Program , Applies Genomics , Yuanquan Song , Applied Genomics , National Institutes , Undiagnosed Diseases Program Victoria , Murdoch Children , Research Institute , Victorian Government , Operational Infrastructure Support , Broad Institute ,

Patients who are overweight or obese at risk of more severe COVID-19


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IMAGE: Patients who are overweight or obese have more severe COVID-19 and are highly likely to require invasive respiratory support, according to a new international study.
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Credit: i yunmai
Patients who are overweight or obese have more severe COVID-19 and are highly likely to require invasive respiratory support, according to a new international study.
The research, led by the Murdoch Children s Research Institute (MCRI) and The University of Queensland and published in
Diabetes Care, found obese or overweight patients are at high risk for having worse COVID-19 outcomes. They are also more likely to require oxygen and invasive mechanical ventilation compared to those with a healthy weight. ....

South Australia , United States , South Africa , Davidp Burgner , Graham Colditz , Jessicae Miller , Siroon Bekkering , Danielle Longmore , Edin Mifsud , Yanshan Zhu , David Burgner , Daniellek Longmore , National Health , Monash University , University Of Queensland , University Of Queensland Dr Kirsty Short , Dutch Heart Foundation Dekker , Washington University , Radboud University Medical Center , Doherty Institute , Department Of Health , Group Leader , Melbourne University , University Of Bern , Research Council , Victorian Government Operational Infrastructure Support Program ,