News tagged with causative genes
Four genes indentified that influence levels of 'bad' cholesterol
Scientists at the Texas Biomedical Research Institute in San Antonio have identified four genes in baboons that influence levels of "bad" cholesterol. This discovery could lead to the development of new drugs to reduce the ...
Medical research
May 15, 2013 |
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Team identifies two genes that combine to cause rare syndrome
Researchers from Massachusetts General Hospital (MGH) and Duke University have identified genetic mutations that appear to underlie a rare but devastating syndrome combining reproductive failure with cerebellar ataxia – ...
Genetics
May 08, 2013 |
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Researchers identify mutation that causes short-sightedness and hearing loss
(Medical Xpress)—Researchers have identified a new disorder caused by a genetic mutation that leads to short sightedness and deafness. They say the new link between the two sensory problems could lead to ...
Genetics
Apr 08, 2013 |
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Faulty gene regulation triggers the kidney disease FSGS
The Clinical Institute of Pathology at the MedUni Vienna has discovered a previously unknown mechanism in the regulation of gene expression that leads to the development of a chronic renal condition known ...
Diseases, Conditions, Syndromes
Mar 20, 2013 |
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New database to speed genetic discoveries
A new online database combining symptoms, family history and genetic sequencing information is speeding the search for diseases caused by a single rogue gene. As described in an article in the May issue of Human Mutation, the da ...
Genetics
Mar 18, 2013 |
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Research uncovers a potential link between Parkinson's and visual problems
The most common genetic cause of Parkinson's is not only responsible for the condition's distinctive movement problems but may also affect vision, according to new research by scientists at the University of York.
Parkinson's & Movement disorders
Feb 15, 2013 |
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24 new genes for short-sightedness identified
An international team of scientists led by King's College London has discovered 24 new genes that cause refractive errors and myopia (short-sightedness).
Genetics
Feb 10, 2013 |
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Scientists create one-step gene test for mitochondrial diseases
More powerful gene-sequencing tools have increasingly been uncovering disease secrets in DNA within the cell nucleus. Now a research team is expanding those rapid next-generation sequencing tests to analyze a separate source ...
Medical research
Jan 29, 2013 |
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Whole-exome sequencing identifies inherited mutations in autism
While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. ...
Autism spectrum disorders
Jan 23, 2013 |
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Faulty gene linked to condition in infants
(Medical Xpress)—Researchers at King's College London have for the first time identified a defective gene at the root of Vici syndrome, a rare inherited disorder which affects infants from birth, leading ...
Genetics
Dec 12, 2012 |
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Scientists discovered genetic cause for rare disorder of motor neurones
(Medical Xpress)—Scientists have identified an underlying genetic cause for a rare disorder of motor neurones, and believe this may help find causes of other related diseases.
Genetics
Dec 07, 2012 |
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Hunt for genes behind Massimo's brain disorder
A University of Queensland researcher has been awarded an $85,000 grant to identify the genes that underlie rare paediatric brain disorders.
Genetics
Nov 23, 2012 |
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Research identifies a genetic cause of hypertension
(Medical Xpress)—A multinational research project led by the Universities of Dundee and Glasgow has identified a genetic determinant of hypertension (or high blood pressure), which could inform treatment of the condition ...
Cardiology
Nov 22, 2012 |
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Scientists deepen genetic understanding of MS
(Medical Xpress)—Five scientists, including two from Simon Fraser University, have discovered that 30 per cent of our likelihood of developing Multiple Sclerosis (MS) can be explained by 475,806 genetic variants in our ...
Genetics
Oct 25, 2012 |
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Protein regulation linked to intellectual disability
Genetics researchers at the University of Adelaide have solved a 40-year mystery for a family beset by a rare intellectual disability – and they've discovered something new about the causes of intellectual disability in ...
Genetics
Oct 25, 2012 |
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