The first nationwide project to genetically diagnose rare diseases will pave the way for translating advances in genomics into patient care in the NHS. Deciphering Developmental Disorders (DDD), a collaboration between the ...
Dec 16, 2014
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Researchers from the University of Tokyo reveal how the presynaptic Ube3a E3 ligase, a causal factor in Angelman syndrome, eliminates neural chatter. The study helps find a better drug target for the Angelman syndrome treatment.
Sep 14, 2023
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When mice are born lacking the master gene Atoh1, none breathe well and all die in the newborn period. Why and how this occurs could provide new answers about sudden infant death syndrome (SIDS), but the solution has remained ...
Sep 6, 2012
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A new genetic sequencing technology from Element Biosciences has helped researchers from the Translational Genomics Research Institute (TGen), part of the City of Hope, identify the likely genetic causes of disorders in six ...
Oct 4, 2023
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The genetic pathway that regulates the way cells align themselves relative to each other has been found to act as a "stop sign" that signals organisms when to halt cell growth, according to new research published by biologists ...
Mar 15, 2012
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Most students read about genetics in a textbook. Stanford University students are reading something far more intimate: their own DNA code.
Jun 3, 2013
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UC Davis researchers have found that for children with the genetic disorder known as chromosome 22q11.2 deletion syndrome anxiety—but not intelligence—is linked to poorer adaptive behaviors, such as self-care and communication ...
Nov 5, 2012
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A rare disorder that causes babies to be born with extra fingers and toes and a range of birth defects has been identified in new research co-led by the University of Leeds.
Jan 30, 2024
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Passing one's genes on to the next generation is a mark of evolutionary success. So it makes sense that the body would work to ensure that the genes the next generation inherits are exact replicas of the originals.
Nov 15, 2012
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A small freshwater fish found in many tropical aquariums may hold the key to unlocking one of the leading causes of respiratory diseases in humans.
Sep 15, 2014
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