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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Olaparib Tablets (Lynparza): For breast cancer with BRCA gene mutation

January 13, 2018 – The American Food and Drug Administration (FDA) has just approved the first treatment for breast cancer with a certain inherited genetic mutation. At first glance, this announcement may be just one in the series of announcements by the FDA on new drug approvals.

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Body shop: First repair of single-gene mutation in human embryos

August 07, 2017 – Humans become reparable like a broken car in the body shop: For the first time, scientists have corrected a disease-causing mutation in early stage human embryos with gene editing (or genome editing). By doing so, researchers  repaired in these early stage human embryos the genetic/molecular defect (i.e.,

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Adverse clinical outcome associated with mutations in colorectal cancers of African Americans

Colon Cancer in AASeptember 04, 2016 – Case Comprehensive Cancer Center researchers, a research collaboration which includes University Hospitals Seidman Cancer Center and Case Western Reserve University, who last year identified new gene mutations unique to colon cancers in African Americans, have found that tumors with these mutations are highly aggressive and more likely to recur and metastasize.

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This is it: First blood test to detect EGFR gene mutations in NSCLC

June 03, 2016 – This is a huge step in the application of theragenomic medicine in cancer patients in the quest to deliver highly individualized health care for patients. Thus, on June 01, the American Food & Drug Administration (FDA) approved the cobas EGFR Mutation Test v2,

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  • Sickle cell anemia is an inherited form of anemia February 28, 2020
    It's important to know the the symptoms, causes, and treatment of sickle cell anemia, an inherited blood disorder that, in the United States, is more common among African Americans.
  • Scientists discover three genes associated with fatal lung disease February 28, 2020
    Researchers at the Universities of Leicester and Nottingham have discovered parts of the DNA that put some people at higher risk of an incurable lung disease called idiopathic pulmonary fibrosis (IPF). The findings are published in the American Journal of Respiratory and Critical Care Medicine today, after an earlier version was posted online in November […]
  • An understudied cause of cancer: Mutations in regulators of cell signaling February 28, 2020
    Mutations in a vital class of regulatory molecules are an underappreciated cause of cancer because they impair the function of "G" proteins, a versatile and vast family of signaling switches that underlie innumerable biological facets of life itself.
  • Could new discovery play a role in diagnosing Alzheimer's earlier? February 27, 2020
    Scientists have detected that a previously overlooked gene behavior could potentially lead to a new way to diagnose Alzheimer's earlier.
  • Huntington's disease-causing DNA repeat mutations reversed in the lab February 27, 2020
    Neurodegenerative diseases, like Huntington's disease and myotonic dystrophy, are often referred to as DNA repeat diseases, named because of long repeated sequences in the DNA of patients. Increasing repeat expansion length in the affected tissues contribute to earlier age of disease onset and worsen the progression and severity of the disease over time.
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