News tagged with genetic syndromes
Biologists use flies, mice to study Down syndrome
A novel study involving fruit flies and mice has allowed biologists to identify two critical genes responsible for congenital heart defects in individuals with Down syndrome, a major cause of infant mortality ...
Genetics
Nov 04, 2011 |
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Cellular repair could reduce premature aging
Researchers have identified a potential drug therapy for a premature ageing disease that affects children causing them to age up to eight times as fast as the usual rate.
Genetics
Nov 02, 2011 |
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Study links Fragile X Syndrome proteins and RNA editing mistakes at nerve-muscle junction
The most common form of heritable cognitive impairment is Fragile X Syndrome, caused by mutation or malfunction of the FMR1 gene. Loss of FMR1 function is also the most common genetic cause of autism. Understanding ...
Neuroscience
Oct 30, 2011 |
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Study breathes new life into fight against primary killer of premature infants
A discovery by scientists at the Salk Institute for Biological Studies might explain why some premature infants fail to respond to existing treatments for a deadly respiratory distress syndrome (RDS) and offers ...
Medical research
Oct 18, 2011 |
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Testosterone concentrations in men affected by genetic makeup
Genetics play an important role in the variation in, and risk of, low testosterone concentrations in men. A study by the CHARGE Sex Hormone Consortium, published in the open-access journal PLoS Genetics on Thursday, 6th Oc ...
Genetics
Oct 06, 2011 |
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New findings validate the accuracy of autism diagnosis in children with Down syndrome
New findings from a 16-year study confirm that the Diagnostic and Statistic Manual of Mental Disorders (DSM), the gold-standard for the classification of mental health conditions, can be used to accurately identify autism ...
Diseases, Conditions, Syndromes
Oct 04, 2011 |
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New drug-like molecule to treat fragile X Syndrome
Researchers at Vanderbilt University Medical Center, in collaboration with Seaside Therapeutics in Cambridge, Mass., have achieved a milestone in the development of a potential new treatment for fragile X ...
Medical research
Sep 16, 2011 |
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New clues to molecular understanding of autism
The first transgenic mouse model of a rare and severe type of autism called Timothy Syndrome is improving the scientific understanding of autism spectrum disorder in general and may help researchers design more targeted interventions ...
Medical research
Sep 12, 2011 |
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In next-gen DNA sequence, new answers to a rare and devastating disease
In Leigh syndrome, infants are born apparently healthy only to develop movement and breathing disorders that worsen over time, often leading to death by the age of 3. The problem is that the mitochondria responsible for powering ...
Medical research
Sep 06, 2011 |
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UT Southwestern program identifies families at high risk for colorectal cancer
UT Southwestern Medical Center has developed a new lifesaving genetic screening program for families at high risk of contracting colorectal cancer, a deadly yet highly preventable form of cancer.
Cancer
Sep 01, 2011 |
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Hair-cell-derived patient-specific heart cells for disease modeling and drug screening
Hair follicle keratinocytes offer a simple and accessible route to generate patient-specific induced pluripotent stem cells, iPSCs, with minimum inconvenience for the patients, shows study presented at the ESC Congress 2011 ...
Cardiology
Aug 29, 2011 |
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Researcher finds altered cerebella in those with Down syndrome
A scientist investigating why those with Down syndrome often have poor balance and motor coordination has found that key eye reflexes are substantially altered.
Medical research
Aug 24, 2011 |
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Study: New process that can save at-risk cancer patients is effective and significantly less costly
People at risk for a certain form of colon and other types of cancer may soon have a better chance at surviving or even avoiding the diseases, thanks to a new study done by the Intermountain Clinical Genetics Institute at ...
Cancer
Aug 16, 2011 |
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Genetic risk factors for restless legs syndrome identified
An international research team has discovered the genetic risk factors for restless legs syndrome (RLS), a disorder that triggers unpleasant sensations in people's legs at night. The study, presented in the ...
Genetics
Aug 04, 2011 |
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Scientist tests promising drug on those with Down syndrome
(PhysOrg.com) -- A University of Colorado School of Medicine scientist is finishing a major clinical trial on a drug that could boost cognitive function in those with Down syndrome, significantly improving their quality of ...
Diseases, Conditions, Syndromes
Aug 02, 2011 |
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