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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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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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 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 ...
Although people with multiple myeloma usually respond well to treatment, the blood cancer generally keeps coming back. Following genetic changes in how the disease evolves over time will help to understand the disease and, ...
Dec 10, 2017
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Researchers at the Broad Institute of MIT and Harvard, Koch Institute at MIT, Dana-Farber Cancer Institute, and Massachusetts General Hospital have developed an accurate, scalable approach for monitoring cancer DNA from blood ...
Nov 6, 2017
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A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...
Jul 17, 2017
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Scientists have identified a genetic mutation that causes a childhood kidney cancer called Wilms' tumour.
May 30, 2017
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Whole-exome DNA sequencing—a technology that saves time and money by sequencing only protein-coding regions and not the entire genome—may routinely miss detecting some genetic variations associated with disease, according ...
Apr 21, 2017
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(Medical Xpress)—An international team of researchers has developed a way to use RNA sequencing to help in diagnosing patients with rare genetic muscle conditions. In their paper published in the journal Science Translational ...
