Genetic studies in humans, zebrafish and mice have revealed how two different types of genetic variations team up to cause a rare condition called Hirschsprung's disease. The findings add to an increasingly clear picture ...
Apr 3, 2015
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An international group of researchers led by Cold Spring Harbor Laboratory (CSHL) Assistant Professor Gholson Lyon has identified a new genetic mutation associated with intellectual disability, developmental delay, autism ...
Apr 12, 2018
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An important class of drug used to treat cancer patients could be used to treat brain aneurysms, according to new research published this week.
May 17, 2019
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An international collaboration led by scientists and doctors from the UK, Netherlands and United States has identified a new genetic disease that affects the size of our brains and causes severe developmental problems.
Sep 7, 2017
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Two children from Europe and one from Canada, aged four, six and 10, suffer from a previously unknown disease that causes epileptic seizures, loss of magnesium and reduced intelligence. There is currently no way to treat ...
Jan 11, 2019
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Physicians and scientists are constantly on the lookout for new disease genes that can help them understand why patients have undiagnosed medical problems. Often the first clues come from genetic testing that reveals a change ...
Nov 23, 2020
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At least half of those with an intellectual disability across the world do not have a formal diagnosis. However, thanks to new DNA sequencing technology, along with the expertise and perseverance of University of Adelaide ...
Jul 29, 2015
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Cleveland Clinic researchers have uncovered genomic characteristics of breast cancers associated with PTEN hamartoma tumor syndrome (PHTS) that differentiate them from sporadic breast cancers. The findings, published in the ...
Aug 4, 2022
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A large new analysis of DNA from thousands of patients has uncovered several underlying gene networks with potentially important roles in autism. These networks may offer attractive targets for developing new autism drugs ...
Jun 6, 2014
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Neurodevelopmental disorders (NDD) encompass highly prevalent conditions such as autism and epilepsy, with cognitive disabilities alone affecting 1-3% of the global population. Developmental epileptic encephalopathies (DEE) ...
Dec 16, 2022
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