Initially the occurrence of progressive retinal degeneration - progressive retinal atrophy, in man called retinitis pigmentosa - had been identified in Schapendoes dogs. Retinitis pigmentosa is the most common hereditary ...
Jun 22, 2011
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A new Brown University computer analysis that predicts the effect of genetic mutations on how the body splices mRNA indicates as many as a third of disease-related mutations may be linked to splicing problems -- more than ...
Jun 13, 2011
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Genetic mutations which cause a debilitating hereditary kidney disease affecting children and young adults have been fixed in patient-derived kidney cells using a potentially game-changing DNA repair-kit. The advance, developed ...
Jul 29, 2022
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A new method of using adult stem cells as a model for the hereditary condition Gaucher disease could help accelerate the discovery of new, more effective therapies for this and other conditions such as Parkinson's, according ...
Oct 15, 2012
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Researchers at King's College London and Hiroshima University, Japan, have identified a specific gene linked to throat cancer following a genetic study of a family with 10 members who have developed the condition.
Mar 8, 2012
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Researchers at the Swedish medical university Karolinska Institutet have discovered a new inherited disorder that causes severe mental retardation and liver dysfunction. The disease, adenosine kinase deficiency, is caused ...
Sep 30, 2011
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More people may have the potential to develop Huntington's disease than previously thought, according to a study published in the June 22, 2016, online issue of Neurology, the medical journal of the American Academy of Neurology. ...
Jun 22, 2016
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Glaucoma is the leading cause of irreversible blindness around the globe, affecting up to 44 million people. Although people of African ancestry are most frequently and severely affected by this hereditary disease, its genetic ...
Jan 18, 2024
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(HealthDay)—HFE p.C282Y homozygosity, the most common gene mutation causing hereditary hemochromatosis (type 1), is associated with other morbidity in men and women, according to a study published online Jan. 16 in The ...
Jan 17, 2019
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A group of patients with a hereditary disorder have had their lives transformed by a single treatment of a breakthrough gene-editing therapy, according to the lead researcher of a trial published in the New England Journal ...
Feb 2, 2024
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