the glocalized network in theragenomic and personalized medicine and the genetics of individual patients safety of drugs
August 13, 2019 – A very significant research article by the title “Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing” has just appeared in the open access Journal Nature Communications. This work provide hope to patients with …
Cystic fibrosis: CFTR-gene editing may cure this genetic disease Read more »
December 12, 2018 – The application of CRISPR/Cas9 based molecular technology in the field of gene editing (or genome editing) has recently had its exploded limelight exposure for a couple of reasons. The question arises if this exposure is earned or …
CRISPR/Cas9 for the Treatment of Duchenne Muscular Dystrophy: Prime time already? Read more »
December 21, 2017 – No pain on gain. This headline might not at all apply for this Italian family. In a paper just published in the Journal Brain, researchers describe a mysterious genetic mutation that effectively negates the sensation of …
Marsili Syndrome: A mutation in the ZFHX2 gene leaves Italian family painless Read more »
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 …
Voretigene Neparvovec-Rzyl (Luxturna): Gene therapy to treat inherited vision loss Read more »
August 1. 2014 – The U.S. Food and Drug Administration today announced the approval of Lumizyme (alglucosidase alfa) for treatment of patients with infantile-onset Pompe disease, including patients who are less than 8 years of age. In addition, the Risk …
April 18, 2014 – Have you ever heard of Mucopolysaccharidosis Type IVA (Morquio A syndrome)? Most probably not. And I would also think that only very few people are familiar with the “Rare Pediatric Disease Priority Review Voucher Program” by …
March 28, 2014 – This is a press release by the FDA (announcement relayed without modification): The U.S. Food and Drug Administration today approved Alprolix, Coagulation Factor IX (Recombinant), Fc Fusion Protein, for use in adults and children who have Hemophilia B. …