News tagged with hereditary disease
FANCM plays key role in inheritance
Scientists of KIT and the University of Birmingham have identified relevant new functions of a gene that plays a crucial role in Fanconi anemia, a life-threatening disease.
Apr 30, 2012 |
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Free radicals in cornea may contribute to Fuchs dystrophy, most common cause of corneal transplants
Scientists have found that free radicals (unstable molecules that cause the death of cells as the body ages) may also cause the damage in the eyes of patients with Fuchs Endothelial Corneal Dystrophy (FECD), a hereditary ...
Medicine & Health / Medical research
Jan 31, 2011 |
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Recalled ICD leads fail in women, youths most often
The recalled Sprint Fidelis implantable cardioverter-defibrillator (ICD) leads (Medtronic) failed more often in younger patients, women, and individuals with hereditary heart disease, according to a multicenter study published ...
Medicine & Health / Medical research
Jan 31, 2011 |
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Doctors use sick boy's DNA in diagnosis, treatment
Doctors and scientists in Wisconsin have published the first detailed account of a groundbreaking medical case in which they sequenced all the genes of a very sick young boy from Monona, Wis., and used the information to ...
Dec 20, 2010 |
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The heritability of Crohn's disease better understood
A University of Liege GIGA-Research Unit team has discovered new particular genetic mutations which influence hereditary predisposition to Crohn's disease, a chronic inflammatory disease of the bowel. The rare variants discovered ...
Dec 17, 2010 |
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Light games with DNA
The diagnosis of hereditary diseases and the identification of genetic fingerprints hinge on high-sensitivity DNA imaging biotechnologies. These imaging tools detect specific genes in cells using fluorophores—fluorescent ...
Dec 10, 2010 |
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Major breakthrough will revolutionize the screening and treatment of genetic diseases
A research team led by Dr. Nada Jabado at the MUHC and Dr. Jacek Majewski at McGill University has proven for the first time that it is possible to identify any genetic disease in record time thanks to a powerful and reliable ...
Jun 10, 2010 |
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Another piece found in disease puzzle
(PhysOrg.com) -- An international research team led by a Simon Fraser University scientist is closer to piecing together a picture of what causes a potentially fatal, rare disease whose symptoms are prevalent in the general ...
Medicine & Health / Medical research
May 14, 2010 |
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Sickle Cell Pain May Be From Damaged Tissues or Nerves
(PhysOrg.com) -- Researchers at the University of Illinois at Chicago have discovered the pain caused by sickle cell disease may not occur solely from damaged tissues, but also from injured nerves. The research is published ...
Medicine & Health / Diseases, Conditions, Syndromes
Mar 10, 2010 |
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Mutation in renin gene linked to inherited kidney disease
A mutation in a gene that helps regulate high blood pressure is a cause of inherited kidney disease, according to a new study by researchers at Wake Forest University School of Medicine, Charles University in Prague and colleagues.
Aug 18, 2009 |
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Hyperferritinemia is another surrogate marker of advanced liver disease
High serum ferritin, being a hallmark of hereditary hemochromatosis , is frequently found in chronic hepatitis C, alcoholic or non-alcoholic steatohepatitis and non-alcoholic fatty liver disease patients . A study in Italy ...
Medicine & Health / Diseases, Conditions, Syndromes
May 13, 2009 |
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Cystic fibrosis testing -- next steps
Three reports describing advances in cystic fibrosis genetic testing appear in the May 2009 issue of The Journal of Molecular Diagnostics.
Medicine & Health / Diseases, Conditions, Syndromes
Apr 27, 2009 |
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'Evolved' virus may improve gene therapy for cystic fibrosis
(PhysOrg.com) -- Researchers from the University of California, Berkeley, and the University of Iowa have turned a relatively benign virus into a highly infectious form that is ideal as a carrier for gene ...
Feb 16, 2009 |
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