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In Caribbeans cystic fibrosis (CF) is driven by very rare CFTR mutations

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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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Theragenomics: Ivacaftor (Kalydeco) in the CFTR mutation-based treatment of cystic fibrosis (CF)

May 18, 2017 – Ivacaftor (Kalydeco) is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator indicated for the treatment of cystic fibrosis (CF) in patients age 2 years and older who are carriers one of the following mutations in the CFTR gene: G551D,

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Theragenomic medicine: Orkambi approved by the FDA as a new treatment for cystic fibrosis

July 2, 2015 – The following post would constitute a perfect example how theragenomic and personalized medicine may help patients who carry genetic predispositions for sometimes rather debilitating and eventually fatal diseases. Thus, the U.S. Food and Drug Administration (FDA) today approved the first drug for cystic fibrosis directed at treating the cause of the disease in people who have two copies of a specific mutation.

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  • New tumor-driving mutations discovered in the under-explored regions of the cancer genome January 18, 2020
    In an unprecedented pan-cancer analysis of whole genomes, researchers at the Ontario Institute for Cancer Research (OICR) have discovered new regions of non-coding DNA that, when altered, may lead to cancer growth and progression.
  • Loss of function in key Y-chromosome genes increases cancer risk in men January 17, 2020
    Numerous studies have shown that men are more susceptible to cancer than women; however, the reason for this difference remains poorly understood. A new study by researchers from the Barcelona Institute for Global Health (ISGlobal) has identified a key biological mechanism that puts men at higher risk of cancer: loss of function in certain genes […]
  • Why we differ in our ability to fight off gut infections January 17, 2020
    Τhe ability of the immune system to fight off bacterial, viral and other invading agents in the gut differs between individuals. However, the biological mechanism by which this happens is not well understood, but at least part of this difference may be explained by genetic factors.
  • Low doses of radiation used in medical imaging lead to mutations in cell cultures January 16, 2020
    Common medical imaging procedures use low doses of radiation that are believed to be safe. A new study, however, finds that in human cell cultures, these doses create breaks that allow extra bits of DNA to integrate into the chromosome. Roland Kanaar and Alex Zelensky of Erasmus University Medical Center and Oncode Institute and colleagues […]
  • Progress in unraveling the mystery of the genomics of Parkinson's disease January 16, 2020
    The International Parkinson Disease Genomics Consortium (IPDGC) has now been in existence for ten years. In an article published in the Journal of Parkinson's Disease the consortium reviews the progress made over the past decade in the genomics of Parkinson's disease (PD) and related disorders including Lewy body diseases, progressive supranuclear palsy, and multiple system […]
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