News tagged with genetic diagnosis
Researchers suggest some emerging infectious diseases may have been around a long time
(Medical Xpress)—A genetics research team led by Pardis Sabeti of Harvard University has published a paper in the journal Science, suggesting that some infectious diseases that are thought to be relati ...
Diseases, Conditions, Syndromes
Nov 09, 2012 |
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Scientists discover mevalonate kinase gene mutations associated with disseminated superficial actinic porokeratosis
A Chinese research team, led by Anhui Medical University and BGI, has found the strong genetic evidences of mevalonate kinase gene (MVK) mutations link to disseminated superficial actinic porokeratosis (DSAP). It is a major ...
Genetics
Sep 16, 2012 |
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Australia-led study in epilepsy breakthrough
An Australia-led study has identified a gene associated with a common form of epilepsy which could lead to earlier diagnosis, a researcher said Tuesday.
Genetics
Apr 02, 2013 |
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New discovery shows genetic causes of rare bone condition
(Medical Xpress)—Researchers at the University of Oxford have discovered two new genetic causes of craniosynostosis, a rare bone condition that can inhibit brain growth in children.
Genetics
Jan 29, 2013 |
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Scientists discover elusive platelet count and limb development gene
Researchers have identified an elusive gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. As a result, this research is now being transformed into ...
Genetics
Feb 26, 2012 |
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Two-day test can spot gene diseases in newborns (Update)
Too often, newborns die of genetic diseases before doctors even know what is to blame. Now scientists have found a way to decode those babies' DNA in just days instead of weeks, moving gene-mapping closer to routine medical ...
Genetics
Oct 03, 2012 |
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Distinct molecular subtype of prostate cancer identified
A collaborative expedition into the deep genetics of prostate cancer has uncovered a distinct subtype of the disease, one that appears to account for up to 15 percent of all cases, say researchers at Weill Cornell Medical ...
Genetics
May 20, 2012 |
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Next-generation DNA sequencing to improve diagnosis for muscular dystrophy
Scientists at The University of Nottingham have used a revolutionary new DNA-reading technology for a research project that could lead to correct genetic diagnosis for muscle-wasting diseases.
Medical research
Mar 05, 2012 |
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Computational software provides rapid identification of disease-causing gene variations
Scientists from the University of Utah and Omicia, Inc., a privately held company developing tools to interpret personal genome sequences, today announced the publication in Genome Research of a new software tool called VAAST, ...
Genetics
Jun 23, 2011 |
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First Alzheimer's case has full diagnosis 106 years later
(Medical Xpress)—More than a hundred years after Alois Alzheimer identified Alzheimer's disease in a patient an analysis of that original patient's brain has revealed the genetic origin of their condition.
Alzheimer's disease & dementia
Jan 09, 2013 |
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Sampling of embryonic DNA after IVF without biopsy
New study published in Reproductive Biomedicine Online shows that fluid-filled cavity in 5-day old human blastocysts may contain DNA from the embryo, allowing diagnosis of genetic disease without a biopsy
Medical research
Apr 02, 2013 |
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Diagnostic brain tumor test could revolutionize care of patients
Researchers at UT Southwestern Medical Center have developed what they believe to be the first clinical application of a new imaging technique to diagnose brain tumors. The unique test could preclude the need ...
Cancer
Jan 27, 2012 |
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Pre-test genetic counseling increases cancer knowledge for BRCA patients
(Medical Xpress) -- Researchers at Moffitt Cancer Center have found that when breast cancer patients are offered pre-test genetic counseling before definitive breast cancer surgery, patients exhibited decreases in distress. ...
Cancer
Aug 15, 2012 |
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Calcium-binding protein mutations found in heart rhythm disorders
A team led by Vanderbilt University investigators has discovered two new genes – both coding for the signaling protein calmodulin – associated with severe early-onset disorders of heart rhythm. The findings, reported ...
Cardiology
Feb 06, 2013 |
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Sequencing works in clinical setting to help -- finally -- get a diagnosis
Advanced high-speed gene-sequencing has been used in the clinical setting to find diagnoses for seven children out of a dozen who were experiencing developmental delays and congenital abnormalities for mysterious reasons.
Pediatrics
May 08, 2012 |
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