Blog Archives

Cystic fibrosis: CFTR-gene editing may cure this genetic disease

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 (CF) that in the nearer future CF may be curable,

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CRISPR/Cas9 for the Treatment of Duchenne Muscular Dystrophy: Prime time already?

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 somewhat premature.

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Marsili Syndrome: A mutation in the ZFHX2 gene leaves Italian family painless

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,

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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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US: Approval of Alglucosidase Alfa [Lumizyme] to treat Pompe disease expanded to patients of all ages

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,

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FDA approves Elosulfase Alfa [Vimizim] to treat the rare congenital enzyme disorder Mucopolysaccharidosis Type IVA (Morquio A syndrome)

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 the FDA.

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FDA approves first long-acting recombinant coagulation Factor IX concentrate for patients with Hemophilia B

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. Alprolix is the first Hemophilia B treatment designed to require less frequent injections when used to prevent or reduce the frequency of bleeding.

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  • Citizen science and paddle surf to study microplastic pollution in Barcelona's coastline February 27, 2020
    A team of the University of Barcelona has studied for the first time the presence of microplastics in the coasts of Barcelona, with the collaboration of the citizens gathering scientific samples. The study, published in the journal Science of Total Environment, is a pioneer citizen science study worldwide, since it analyses a hard-access area for […]
  • Celiac disease might be cured by restoring immune tolerance to gliadin February 27, 2020
    Celiac disease affects 0.3-2.4% of people in most countries world-wide, and approx. 2% in Finland. Celiac patients suffer from a variety of symptoms, typically intestinal complaints, such as diarrhea, but are often symptom-free. Immunologist Tobias Freitag co-developed and tested nanoparticles containing gliadin for the immunomodulatory treatment of celiac disease in Professor Seppo Meri's research group […]
  • Abnormal growth of bacterial cells could be linked to anti-microbial resistance February 27, 2020
    Scientists from the University of Surrey have identified mutations in a gene in an Escherichia coli (E.coli) model that could help explain a form of anti-microbial resistance (AMR) known as 'persistence'.
  • Study unravels how our immune system deals with fungal and viral infections February 27, 2020
    The body's immune response to fungal infections changes when a patient is also infected by a virus, according to new research which investigated the two types of infection together for the first time.
  • How the brain separates words from song February 27, 2020
    The perception of speech and music -- two of the most uniquely human uses of sound -- is enabled by specialized neural systems in different brain hemispheres adapted to respond differently to specific features in the acoustic structure of the song, a new study reports.
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