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Is genetic testing of value for ALS patients?

January 19, 2018 – Patients suffering from amyotrophic lateral sclerosis (ALS) find value in genetic testing for the disease, whether or not they have a family history of the condition, according to findings from a survey conducted by U.S. researchers, just published in the November 2017 issue of Molecular Genetics &

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Voretigene Neparvovec-Rzyl (Luxturna): Gene therapy to treat inherited vision loss

December 20, 2017 –  The American Food & Drug Administration (FDA) has just approved  a novel gene therapy to treat patients with a rare form of inherited vision loss. Voretigene Neparvovec-Rzyl (Luxturna) is the first directly administered gene therapy approved to target a disease caused by mutations in a specific human gene (i.e.,

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Twin cities facing genetic disaster: Fumarase deficiency

August 03, 2017 – Fumarase deficiency is extremely rare – until around 1990 there had only been 13 diagnosed and identified cases worldwide. Fumarase deficiency is an autosomal recessive metabolic disorder characterized by a deficiency of the enzyme fumarate hydratase,

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