A team of researchers affiliated with several institutions in Australia and the U.K. has found evidence that suggests one type of epilepsy people carry today can be traced back to a mutation that occurred in a single person ...
Researchers have identified a new genetic mutation at the heart of a severe and potentially deadly seizure disorder found in infants and young children. The finding, which was reported today in the journal American Journal ...
Apr 2, 2015
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When a group of researchers in the Undiagnosed Disease Network at Baylor College of Medicine realized they were spending days combing through databases searching for information regarding gene variants, they decided to do ...
May 11, 2017
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By using new methods for analyzing DNA data and medical records, researchers from Brown University are helping improve the understanding of complex traits that will make more discoveries relevant to non-white, non-European ...
May 4, 2022
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Researchers at Vanderbilt University Medical Center and colleagues have identified genetic factors that increase the risk for developing pneumonia and its severe, life-threatening consequences.
Jan 21, 2021
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Sufferers of rare mitochondrial disease have new hope with a new method developed at the University of Sydney. The method provides a diagnosis within weeks instead of months or years through a simple blood sample.
Aug 14, 2017
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Acute lymphoblastic leukemia (ALL), a cancer involving white blood cells known as lymphocytes, is the most common childhood cancer, representing 25% of all cancer diagnoses. It's also one of the leading causes of childhood ...
Sep 10, 2021
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In 2001, Christine Skibola, Ph.D., now a professor of epidemiology at the University of Alabama at Birmingham School of Public Health, joined forces with a small group seeking a large goal – discovery of genetic and environmental ...
Nov 6, 2014
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Murdoch Children's Research Institute (MCRI) scientists have shown a new approach to genetic analysis could greatly improve diagnostic rates for children with baffling and often fatal mitochondrial diseases.
Aug 7, 2017
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In the most comprehensive genetic study of the people living in the Eastern Highlands of Papua New Guinea to date, researchers from Papua New Guinea and the U.K. reveal the complex population structure and migration patterns ...
Mar 19, 2024
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