Finding genes for retinal degenerations has immediate benefits for people living with blindness and vision loss, their families, and their physicians. Establishing a genetic cause confirms the clinical diagnosis at the molecular ...
Jan 12, 2015
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The first results to emerge from a nationwide project to study the genetic causes of rare developmental disorders have revealed 12 causative genes that have never been identified before. The Deciphering Developmental Disorders ...
Dec 24, 2014
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The Irish arm of a new worldwide project which will dig deep into thousands of DNA profiles in order to discover the genetic causes of Motor Neurone Disease (MND) has been launched in Ireland by Professor Orla Hardiman's ...
Dec 4, 2014
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A new breakthrough could help kidney stone sufferers get an exact diagnosis and specific treatment after genetic links to the condition were identified.
Oct 29, 2014
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Scientists have pinpointed for the first time the genetic cause in some people of an incurable muscle-wasting disease, Emery-Dreifuss muscular dystrophy (EDMD).
Sep 11, 2014
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Researchers at Children's Hospital Los Angeles (CHLA) have developed a unique next-generation sequencing test for the gene linked to retinoblastoma. The new approach is both more comprehensive and can be conducted in less ...
Jun 3, 2014
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Analysis of genetic variation in the exome, the DNA sequence of genes that are translated into protein, can aid in uncovering the cause of conditions for which no genetic cause could previously be found, and this can directly ...
Jun 1, 2014
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(Medical Xpress)—Scientists know there is a strong genetic component to bipolar disorder, but they have had an extremely difficult time identifying the genes that cause it. So, in an effort to better understand the illness's ...
Feb 13, 2014
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Scientists from The University of Manchester and Central Manchester University Hospitals NHS Foundation Trust have identified the cause of a rare condition called Leri's pleonosteosis (LP).
Jan 24, 2014
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Research by the University of Exeter Medical School has revealed two new genetic causes of neonatal diabetes.
Jan 7, 2014
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