Molecular pathology of Schaaf-Yang syndrome: insights from MAGEL2 gene mutations and truncated proteins

Study results better define genetic landscape of cervical neuroendocrine tumors

mutation in McGill 2 The gene that causes Schaaf-Yan syndrome (SYS), an extremely rare disorder that affects neuronal and cognitive development, produces truncated, non-functional proteins that tend to accumulate in …

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Study reveals challenges faced by caregivers of children with genetic disease

Study reveals challenges faced by caregivers of children with genetic disease

When it comes to improving the lives of children with genetic diseases, medical research often focuses only on children. But a faculty member in the University of Colorado School of …

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Large-scale genetic study finds new link between irritable bowel syndrome and cardiovascular system

Large-scale genetic study finds new link between irritable bowel syndrome and cardiovascular system

Image source: Unsplash/CC0 Public Domain New research published in journal Cellular and Molecular Gastroenterology and Hepatology Uncover common disease mechanisms of irritable bowel syndrome (IBS) and cardiovascular disease (CVD). The …

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