News tagged with mendelian disorder
For the first time, scientists discover causative gene of a rare disorder by exome sequencing
(PhysOrg.com) -- UW researchers have successfully used a method called exome sequencing to quickly discover a previously unknown gene responsible for a rare disorder. The finding demonstrates the usefulness ...
Nov 17, 2009 |
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Double-teaming a whole-genome hunt
By inspecting the sequence of all 3 billion "letters" that make up the genome of a single person affected with a rare, inherited disorder, a Johns Hopkins and Duke University team ferreted out the single genetic mutation ...
Jul 12, 2010 |
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Sequencing a single genome yields cause of inherited bone disorder
Combining new, whole-genome sequencing technology with classic genetic approaches to understanding inherited diseases, Duke University Medical Center geneticists and colleagues at Johns Hopkins have discovered two gene mutations ...
Jun 17, 2010 |
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Researchers Use New Sequencing Strategies To Discover Rare Inherited Illness Rapidly
(PhysOrg.com) -- A team of researchers from the National Human Genome Research Institute (NHGRI) has demonstrated a new technical strategy that promises to rapidly determine the genetic cause for very rare inherited illnesses. ...
May 07, 2010 |
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UCSF transgenic mouse mimics Parkinson's earliest symptoms
UCSF researchers have created the first transgenic mouse to display the earliest signs of Parkinson's disease using the genetic mutation that is known to accompany human forms of the disease.
May 03, 2010 |
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Epigenetic changes discovered in major psychosis
Scientists have discovered epigenetic changes (i.e. chemical changes to a gene that do not alter the DNA sequence) in individuals with schizophrenia and bipolar disorder. This is the first epigenome-wide investigation in ...
Medicine & Health / Diseases, Conditions, Syndromes
Mar 11, 2008 |
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With just 3 affected individuals, researchers find gene behind rare form of epilepsy
Researchers have found a gene responsible for a particularly debilitating form of epilepsy that also leads to kidney failure, according to a report published online on February 28th and also in the March 7th print issue of ...
Feb 28, 2008 |
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List of search results for mendelian disorder
