Research funded by children's charity Action Medical Research has uncovered new gene variants in startle disease, a rare condition in newborn babies. Understanding the genetic causes should lead to new genetic tests and is ...
May 30, 2013
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Researchers at Iowa State University have identified an RNA structure in humans that could lead to a new treatment for spinal muscular atrophy, the leading genetic cause of death in babies and young children.
Jul 19, 2013
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(Medical Xpress)—The study, in a South African-British-French collaboration which led to the discovery of the little-known novel gene called FAM111B, brings hope to millions of families across the world who pass on this ...
Nov 22, 2013
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Researchers at Mount Sinai School of Medicine have identified the genetic cause of a rare and fatal bone disease by studying frozen skin cells that were taken from a child with the condition almost fifty years ago. Their ...
Aug 29, 2012
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The genetic causes of a group of related infant cancers have been discovered by scientists at the Wellcome Sanger Institute, the University of Wuerzburg and their collaborators. Whole genome sequencing of tumours revealed ...
Jun 18, 2018
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University of Michigan researchers have discovered a new cause of congenital myopathy: a mutation in a previously uncharacterized gene, according to research published this month in the American Journal of Human Genetics.
Jul 25, 2012
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A scientific collaboration, involving the Manchester Centre for Genomic Medicine (MCGM) at Saint Mary's Hospital, UK, and the Telethon Institute of Genetics and Medicine (TIGEM) in Naples, Italy, has pinpointed the genetic ...
Jun 23, 2015
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More than 50 million people worldwide have epilepsy, with a third of these being children. The most common forms of epilepsy in children occur without any apparent trigger and only affect certain regions of the brain. This ...
Aug 12, 2013
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Researchers at UMass Medical School have developed a genome-editing strategy to correct disease-causing DNA mutations in mouse models of human genetic diseases, according to research published in the Aug. 18 edition of Nature ...
Aug 14, 2018
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A study by scientists at the Motor Neuron Center at Columbia University Medical Center suggests that spinal muscular atrophy (SMA), a genetic neuromuscular disease in infants and children, results primarily from problems ...
Nov 20, 2012
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