A simple vitamin could successfully treat a rare but potentially fatal genetic disease, according to research led by a Concordia undergraduate student.
Mar 7, 2023
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Arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5) is a fatal genetic disease for which there is unfortunately no cure. Now, scientists at the Centro Nacional de Investigaciones Cardiovasculares (CNIC) and Puerta ...
Sep 5, 2019
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Scientists for the first time have used CRISPR gene editing to halt the progression of Duchenne muscular dystrophy (DMD) in a large mammal, according to a study by UT Southwestern that provides a strong indication that a ...
Aug 30, 2018
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"For a very long time, there has been discussion about whether cystic fibrosis was a bacteria-infection problem, an inflammation problem, or an immune system problem," said Juan Ianowski, the lead author of the paper published ...
Oct 6, 2017
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Scientists have demonstrated how an investigational drug works against a rare, fatal genetic disease, Niemann-Pick type C1 (NPC1). They found that a closely related compound will activate an enzyme, AMPK, triggering a cellular ...
Jul 17, 2017
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Two papers published today by the Journal of the Royal Society of Medicine, debate gene editing and the health of future generations. Stage and screen actress Kiruna Stamell, who has a rare form of dwarfism, proposes that ...
Apr 27, 2017
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Harvard Stem Cell Institute (HSCI) researchers have identified a compound that helps protect the cells destroyed by spinal muscular atrophy (SMA), the most frequent fatal genetic disease in children under 2 years of age.
Apr 17, 2017
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A Queen's University doctor has played a key role in a major breakthrough to change the lives of cystic fibrosis sufferers.
Jun 26, 2014
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(Medical Xpress)—An international team of researchers has discovered a way to silence the genes that cause transthyretin amyloidosis—a fatal genetic disease. In their paper published in the New England Journal of Medicine, ...
A clinical trial to evaluate a drug candidate called cyclodextrin as a possible treatment for Niemann-Pick disease type C1 (NPC), a rare and fatal genetic disease, will start today, researchers announced. Scientists from ...
Jan 23, 2013
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