Scientists discover genetic basis and molecular mechanisms of new neurodevelopmental syndrome
Scientists at the University of North Carolina at Chapel Hill School of Medicine and colleagues have demonstrated that variants in the SPTBN1 gene can alter neuronal architecture, dramatically affecting their function and leading to a rare, newly defined neurodevelopmental syndrome in children.
Damaris Lorenzo, PhD, assistant professor in the UNC Department of Cell Biology and member of the UNC Neuroscience Center at the UNC School of Medicine, led this research, which was published today in the journal
Nature Genetics. Lorenzo, who is also a member of the UNC Intellectual and Developmental Disabilities Research Center (IDDRC) at the UNC School of Medicine, is the senior author.
Scientists publish a how-to guide for creating mouse-human chimeric embryos
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Scientists find genetic cause, underlying mechanisms of new neurodevelopmental syndrome
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Every variant of concern has now been detected in Erie County
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QF researchers report largest genetic association study in Middle East
08 May 2021 - 8:38
Prof Omar Albagha
The Peninsula
Doha: A group of researchers at Qatar Foundation have reported the first and largest genetic association study in the Middle East, that has been published online in Nature Communications a leading a peer-reviewed, open access, scientific journal published by Nature Research.
The study titled “Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits” highlights a vital piece of information wherein now there is a better understanding of the genetic risk factors that are specific to the Arab population, including those that are shared with other ethnicities.