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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  • New candidate cancer genes identified using math models November 15, 2019
    Computational modeling is the use of computers to simulate and study the behavior of complex systems. Computational approaches are widely adopted in the bioimedical sciences and can be used to sift through large volumes of complex data to extract recurrent patterns that may point to a disease's causes and effects.
  • Turning 'junk' DNA into gold November 15, 2019
    Mining the rich uncharted territory of the genome or genetic material of a cancer cell has yielded gold for Princess Margaret scientists: new protein targets for drug development against prostate cancer.
  • Researchers take first step toward genetic test for childhood short-sightedness November 15, 2019
    Researchers from the Universities of Cardiff and Bristol have devised a test that could in future help to identify children at risk of developing a very common eye condition.
  • Researchers link sisters' paralysis to an 'extremely rare' genetic variant November 15, 2019
    Following a nearly 25-year search across three continents, parents of a pair of sisters—who as children slowly became paralyzed from the waist down—finally have a diagnosis, according to researchers at University of Southern California (USC) and Translational Genomics Research Institute (TGen), an affiliate of City of Hope.
  • Genetic variation in individual brain cell types may predict disease risk November 15, 2019
    One might think that the primary cause of most genetically linked diseases comes from mutations in coding DNA—alterations in coding regions of the genome that can lead directly to changes in the expression of particular proteins important for a healthy body. But the majority of human DNA is non-coding DNA—regions of DNA that do not […]
  • Teens with heart disease improve exercise capacity in large clinical trial November 17, 2019
    The largest-ever clinical trial of a medication for pediatric cardiology patients found that an oral drug significantly improved exercise capacity in adolescent patients with severe, congenital single-ventricle heart defects. A study leader says the physiologic benefits represent a milestone in the care of those who have undergone the Fontan procedure, a palliative operation for single-ventricle […]
  • Rare genetic variants predispose to sudden cardiac death November 16, 2019
    By identifying rare DNA variants that substantially increase risk of sudden cardiac death, researchers have laid the foundation for efforts to identify individuals who could benefit from prevention strategies prior to experiencing symptoms.
  • Early diagnosis of pregnancy-associated heart disease linked to better outcomes November 16, 2019
    Women who are diagnosed with peripartum cardiomyopathy (PPCM) during late pregnancy or within a month following delivery are more likely to experience restored cardiac function and improved outcomes compared to those who are diagnosed later in the postpartum period, according to a new study. The findings underscore the need for increased awareness and monitoring of […]
  • Intermittent fasting increases longevity in cardiac catheterization patients November 16, 2019
    In a new study by researchers at the Intermountain Healthcare Heart Institute in Salt Lake City, researchers have found that cardiac catheterization patients who practiced regular intermittent fasting lived longer than patients who don't.
  • New catalysts remove NOx pollutants at lower temperatures November 16, 2019
    Scientists from Tokyo Metropolitan University have developed a low-temperature catalyst for removing NOx gas from industrial exhaust using ammonia. Composed of bulk 'defective' vanadium oxide instead of vanadium oxides supported on titanium oxide like in commercial catalysts, the catalyst works at lower temperatures (< 150 degrees Celsius) with much higher efficiency. The team demonstrated a […]
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