Genetic Defects
Study finds iPS cells match embryonic stem cells in modeling human disease
(Medical Xpress) -- Stanford University School of Medicine investigators have shown that iPS cells, viewed as a possible alternative to human embryonic stem cells, can mirror the defining defects of a genetic condition — ...
Medical research
Dec 13, 2011 |
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Clinical trial of molecular therapy for muscular dystrophy yields significant positive results
A molecular technique originally developed at the University of North Carolina at Chapel Hill has taken one step closer to becoming a treatment for the devastating genetic disease Duchenne muscular dystrophy.
Medical research
Jul 25, 2011 |
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Genetic defect disturbs salt handling and pushes up blood pressure levels
(Medical Xpress) -- Hypertension is an endemic condition with far-reaching consequences. For instance, high blood pressure is the main cause of heart attacks and strokes. Other organs are also damaged by the ...
Genetics
Nov 25, 2011 |
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Brain and heart link may explain sudden death in Rett
Poets might scoff at the notion that heart and brain are closely related, but scientists led by those at Baylor College of Medicine (www.bcm.edu) say a genetic defect that affects the brain can stop a heart.
Medical research
Dec 14, 2011 |
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Faulty gene linked to condition in infants
(Medical Xpress)—Researchers at King's College London have for the first time identified a defective gene at the root of Vici syndrome, a rare inherited disorder which affects infants from birth, leading ...
Genetics
Dec 12, 2012 |
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The gene therapy renaissance: How experimental technique overcame a troubled legacy and is now helping the blind to see
(Medical Xpress)—In 1999, researchers at the University of Pennsylvania injected 19 people with a virus carrying a gene designed to correct a rare metabolic disease. Early results appeared promising: Among ...
Genetics
Apr 19, 2013 |
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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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Breathtaking: New treatments for a fatal lung disease
Research paves the way for new approaches in the treatment of pulmonary arterial hypertension, a progressive lung disease that can lead to heart failure within three years.
Medical research
Mar 11, 2013 |
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Discovery of genetic defect that triggers epilepsy
Researchers at the University Department of Neurology at the MedUni Vienna have identified a gene behind an epilepsy syndrome, which could also play an important role in other idiopathic (genetically caused) ...
Neuroscience
Apr 17, 2013 |
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Pathway controlling cell growth revealed
A Melbourne-based research team has discovered a genetic defect that can halt cell growth and force cells into a death-evading survival state.
Cancer
Feb 18, 2013 |
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The same genetic defect causes Pompe disease in both humans and dogs
Pompe disease, a severe glycogen storage disease appearing in Lapphunds is caused by a genetic defect in acid α-glucosidase gene. The same genetic mutation also causes the equivalent disease in humans. Based ...
Genetics
Feb 15, 2013 |
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Three cancer scientists awarded $500K Nmedical prize
Three scientists at universities in Pennsylvania, Illinois and Oregon whose research has helped transform cancer treatment will share one of the richest prizes in medicine and biomedical research.
Cancer
Apr 16, 2013 |
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Study shows how vitamin E can help prevent cancer
Researchers have identified an elusive anti-cancer property of vitamin E that has long been presumed to exist, but difficult to find.
Cancer
Mar 14, 2013 |
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Live longer with fewer calories
By consuming fewer calories, ageing can be slowed down and the development of age-related diseases such as cancer and type 2 diabetes can be delayed. The earlier calorie intake is reduced, the greater the effect. Researchers ...
Medical research
Oct 31, 2011 |
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Overlooked ugly cholesterol causes heart disease
The risk of ischaemic heart disease – a disease affecting some 150,000 Danes – is three times higher in persons with high levels of the so-called 'ugly' cholesterol. This is the finding of a new study of 73,000 Danes, ...
Cardiology
Jan 21, 2013 |
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A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions.
A genetic disorder may or may not be a heritable disorder. Some genetic disorders are passed down from the parents' genes, but others are always or almost always caused by new mutations or changes to the DNA. In other cases, the same disease, such as some forms of cancer, may be caused by an inherited genetic condition in some people, by new mutations in other people, and by non-genetic causes in still other people.
Some types of recessive gene disorders confer an advantage in certain environments when only one copy of the gene is present.
This text uses material from Wikipedia and is available under the GNU Free Documentation License.
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