A team led by researchers at the University of California, San Diego School of Medicine reports that newly discovered mutations in an evolved assembly of genes cause Joubert syndrome, a form of syndromic autism.
Jan 26, 2012
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For the first time scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave the way for personalised treatment in the future.
Nov 16, 2018
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The results of an international study published in Nature Cell Biology have identified a gene (TMEM107) associated with Joubert syndrome, and crucially uncovered the mechanism by which it functions in cells, leading to a ...
Nov 25, 2015
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For more than a decade, the Care4Rare Canada Consortium (Care4Rare) has provided answers for families living with undiagnosed rare disease. Care4Rare is an international trailblazer in rare disease, using cutting-edge technologies ...
Nov 3, 2022
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An important link has been found between the intellectual disability experienced by children with the rare disease Joubert Syndrome (JS) and defects in the hippocampus. The hippocampus is the part of the brain associated ...
May 10, 2022
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Scientists have developed a new way to understand complex genetic diseases and have identified a gene that modifies the severity of inherited kidney disease, paving the way for personalised treatments.
Jan 9, 2020
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A new mouse model for Joubert Syndrome has been developed by University of Bath scientists, who hope it will accelerate research to understand how the disease develops as well as help develop and evaluate therapeutic approaches.
Apr 2, 2019
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An antenna-like structure on cells, once considered a useless vestige, appears to be important for proper brain development in mammals and when impaired can cause defects in the brain's wiring similar to what's seen in autism, ...
Aug 7, 2017
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(Medical Xpress)—Scientists at Newcastle University have discovered a way of treating a rare disease which leads to kidney failure and death in children.
Jul 17, 2014
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(Medical Xpress)—A cilia disease protein causing Joubert Syndrome, ARL-13, is actively trafficked across the base of cilia and molecular diffusion barriers prevent its exit, according to new research from the UCD Conway ...
Dec 10, 2013
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