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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Progeria: Promising results from new gene therapy on animals
Researchers are continuing their efforts in an attempt to counter the consequences of the genetic defect that causes Progeria. Until now, no model had been able to accurately imitate the effects of the disease in humans. ...
Medical research
Oct 27, 2011 |
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Neurbiological mechanism behind anorexia/self starvation found in mouse
Researchers at Karolinska Institutet have found inborn traits in mice, which might explain why some individuals are more prone to develop anorexia/self starvation than others. A study showing that genetic defects in the cells ...
Medical research
Oct 25, 2011 |
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Gene mutations predict early, severe form of kidney disease
The most common kidney disease passed down through families, autosomal dominant polycystic kidney disease (ADPKD) affects one in 400 to 1,000 individuals and is characterized by cysts on the kidneys. The condition slowly ...
Genetics
Oct 24, 2011 |
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Adult congenital heart patients with highest surgery costs more likely to die in hospital
Higher surgical costs for adult congenital heart patients is associated with higher rates of inpatient death compared to surgical admissions that incur lower costs, according to a study in Circulation: Quality and Outcomes, a jour ...
Cardiology
Oct 18, 2011 |
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Severe hypoglycemia cause identified
Cambridge scientists have identified the cause of a rare, life-threatening form of hypoglycaemia. Their findings, which have the potential to lead to pharmaceutical treatments for the disorder, were published today in the ...
Genetics
Oct 06, 2011 |
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Mouse experiments show fickle functions for folic acid
(Medical Xpress) -- Dietary folic acid helps prevent a subset of neurological birth defects in humans -- although the precise mechanism by which it prevents them is unclear. Now, researchers have found that certain genetic ...
Genetics
Oct 06, 2011 |
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Unraveling a new regulator of cystic fibrosis
Cystic fibrosis (CF), a chronic disease that clogs the lungs and leads to life-threatening lung infections, is caused by a genetic defect in a chloride channel called cystic fibrosis transmembrane conductase regulator (CFTR). ...
Diseases, Conditions, Syndromes
Sep 19, 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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Study discovers new genes for rare inherited diseases
An international team of researchers has identified two new genes connected with hereditary renal diseases.
Genetics
Sep 06, 2011 |
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Researchers identify gene that leads to myopia (nearsightedness)
A Ben-Gurion University of the Negev research group led by Prof. Ohad Birk has identified a gene whose defect specifically causes myopia or nearsightedness.
Genetics
Sep 01, 2011 |
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'Gene overdose' causes extreme thinness
Scientists have discovered a genetic cause of extreme thinness for the first time, in a study published today in the journal Nature.
Genetics
Aug 31, 2011 |
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Defect in A20 gene expression causes rheumatoid arthritis
Researchers from VIB (Flanders Institute for Biotechnology) and Ghent University have shown that a defective gene can contribute to the onset of rheumatoid arthritis, an often-crippling inflammation of the joints that afflicts ...
Genetics
Aug 16, 2011 |
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Why patients with epidermolysis bullosa suffer extreme pain
For patients suffering from epidermolysis bullosa (EB), a hereditary skin disease, even a gentle touch is extremely painful. Now Dr. Li-Yang Chiang, Dr. Kate Poole and Professor Gary R. Lewin of the Max Delbruck Center for ...
Neuroscience
Jul 08, 2011 |
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German parliament OKs genetic embryo tests
(AP) -- After an emotional debate, German lawmakers voted Thursday to allow a procedure that looks for genetic disorders in embryos before they are implanted in the womb.
Genetics
Jul 07, 2011 |
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