Hereditary spastic paraplegias (HSP) are a group of hereditary diseases that result in progressive loss of motor function in the lower limbs, and mutations in many different genes have been implicated in disease progression. ...
Sep 24, 2013
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Scientists at the European Molecular Biology Laboratory (EMBL) in Heidelberg and Regensburg University, both in Germany, and the University of Lisboa, in Portugal, have discovered a promising potential drug target for cystic ...
Sep 13, 2013
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Counterintuitive as it may seem, genetic mutation is key to our evolution and survival.
Jul 2, 2013
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In a new publication that appears in Human Molecular Genetics, the laboratory of Christine DiDonato, PhD reports on their pharmacological characterization of the drug RG3039, demonstrating that it can extend survival and ...
Jun 4, 2013
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The very serious hereditary disease HDLS was discovered in 1984 in Sweden. Many HDLS patients are still incorrectly diagnosed with Alzheimer's disease, MS or Parkinson's disease, but researchers at the Sahlgrenska Academy, ...
Apr 10, 2013
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Germany's upper house of parliament on Friday gave its green light to testing embryos after in vitro fertilisation in certain cases after a passionate ethical debate in the country on the issue.
Feb 1, 2013
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(Medical Xpress)—Muscular dystrophy is caused by the largest human gene, a complex chemical leviathan that has confounded scientists for decades. Research conducted at the University of Missouri and described this month ...
Jan 22, 2013
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The patients have single short fingers (metacarpals) and toes (metatarsals) and can be restricted in growth due to a shortened skeleton. This hereditary disease is called brachydactyly type E (Greek for short fingers). Three ...
Nov 5, 2012
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High blood cholesterol, a serious hereditary disease, is far more common than previously recognised and not treated sufficiently. This is shown in new research from the University of Copenhagen and Herlev Hospital, and the ...
Nov 1, 2012
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Researchers from the Guy Rouleau Laboratory affiliated with the CHUM Research Centre and the CHU–Sainte-Justine Research Centre have discovered the genetic cause of a rare disease reported only in patients originating from ...
Sep 6, 2012
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