In a set of identical twins, investigators led by researchers at Massachusetts General Hospital (MGH) and Children's Hospital Philadelphia (CHOP) have identified a mitochondrial disease not previously reported.
Oct 14, 2022
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Genetic testing can diagnose cardiomyopathy—a disease of the heart muscle—in children and help detect who will have heart failure and require a transplant, a new study has found.
Oct 13, 2022
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Based on the findings of a new study published in Brain, researchers from the Institute of Psychiatry, Psychology & Neuroscience (IoPPN) at King's College London are calling for a complete rethink of the national guidelines ...
Sep 26, 2022
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Genetic variation affecting developmental genes not previously linked to urethral development may contribute to a congenital condition that is the most common cause of kidney failure in young males, a study published today ...
Sep 20, 2022
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Scientists at the CNIC and Hospital Universitario Puerta de Hierro in Majadahonda have developed a software application that predicts the likelihood that a case of dilated cardiomyopathy is caused by a genetic mutation. The ...
Sep 12, 2022
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科学家们已经找到一种方法来识别nd interpret 'signatures' that reveal the complex genetic causes of some of the deadliest cancers—which often have a survival rate of less than 10%. The results, published today ...
Jun 15, 2022
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The same property of thalidomide that caused birth defects when it was given to pregnant women—the inhibition of blood vessel formation (anti-angiogenesis)—has led to an interest in thalidomide's therapeutic utility in ...
Jun 10, 2022
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Over the last 15 years, researchers at the Stanley Center for Psychiatric Research at the Broad Institute of MIT and Harvard have been working to decode the biological causes of schizophrenia, which affects 20 million people ...
Apr 07, 2022
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Patrice Abela first knew something was wrong when his eldest daughter was learning to walk and her feet left trails of blood behind her, yet she showed no sign of distress.
Apr 05, 2022
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University of Otago-led research has identified a new rare genetic mutation which will finally give families around the world answers as to what is affecting their loved one.
Mar 09, 2022
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