Landmark research, involving scientists at UCL, has for the first time identified ten genes with extremely rare protein-disrupting mutations, that significantly increase an individual's risk of developing schizophrenia.
Apr 6, 2022
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The prevalence of intellectual disabilities, which means difficulties with learning and understanding new things, is roughly 1-2% in the population. People with a severe intellectual disability need help from others in daily ...
Apr 19, 2021
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When babies are born with congenital hydrocephalus (CH), a condition traditionally thought to be a result of a buildup of cerebrospinal fluid (CSF) in the brain, neurosurgeons normally treat the condition by surgically implanting ...
Nov 5, 2020
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In the world of rare genetic diseases, exome and genome sequencing are two powerful tools used to make a diagnosis. A recent addition to the toolkit, RNA sequencing, has been demonstrated to help researchers narrow down disease ...
Oct 27, 2020
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Children who undergo expansive genetic sequencing may not be getting the thorough DNA analysis their parents were expecting, say experts at UT Southwestern Medical Center.
Jan 6, 2020
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Sarcomas—cancers that arise from transformed mesenchymal cells (a type of connective tissue)—are quite deadly. Gastrointestinal stromal tumors (GISTs) are the most common human sarcoma and are initiated by activating ...
Oct 24, 2019
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A new machine-learning method accurately identifies regions of the human genome that have been duplicated or deleted—known as copy number variants—that are often associated with autism and other neurodevelopmental disorders. ...
Jul 10, 2019
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A genomic strategy implemented by researchers at Baylor College of Medicine can efficiently increase the molecular diagnostic rate of undiagnosed diseases. The researchers report in the New England Journal of Medicine that ...
Jun 20, 2019
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A team of researchers at the Albert Einstein College of Medicine has found that the number of somatic mutations in human B lymphocytes increases with age. In their paper published in Proceedings of the National Academy of ...
A new kind of prenatal genetic testing can improve obstetricians' ability to diagnose the underlying causes of fetal anomalies found during prenatal ultrasounds. But the results require expert interpretation, according to ...
Jan 31, 2019
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