Blog Archives

The diversity of Asian genomes

January 26, 2020 – An effort to map thousends of genomes across Asia has certainly the potential to find novel gene variants affecting disease and responses to drugs, and to reveal the complex origins of Asian populations.

In a pilot study,

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Degree of African ancestry may influence gene expression levels

January 26, 2020 – Common belief holds that differences in genes (i.e., allelic variants) in combination with differing frequencies of such allelic variants in populations of different ethnic background may explain the differences in the frequency and/or severity of overt diseases in different ethnic groups and/or populations.

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Black people with natural blonde hair – Everything is possible in genetics

August 07, 2019 – Blonde hair is a rare human phenotype found almost exclusively in Europe and Oceania. Human pigmentation varies considerably within and among populations and is a function of both variation in exposure to ultraviolet radiation (UVR) and the type and quantity of melanin produced in melanocytes and keratinocytes.

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Genetic aspects of globesity: Glocalized or not?

June 25, 2019 – The global obesity epidemic is so far-reaching it now has an overarching name: globesity (obviously derived from global obesity).  Very interesting questions arise in this context such as are there glocalized (global and or local) factors involved in this epidemic.

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Living theragenomic medicine: Direct to consumer test for metabolism of drugs FDA approved

November 08, 2018 –  The American Food and Drug Administration (FDA) has just authorized the first direct-to-consumer test for detecting genetic variants in genes that may govern the metabolism of drugs in individual patients.

Thus, FDA permits marketing, with special controls,

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New gene variants in depression

May 13, 2018 – Researchers have uncovered 17 genetic variants linked to different depression-related phenotypes in a large genome-wide association study, including variants near genes involved in neurotransmission and synapse function.

The first author of the study, David Howard, Center for Clinical Brain Sciences, University of Edinburgh,

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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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DNMT3B gene variant influences nicotine dependence

December 09, 2017 – Newest research has revealed that a DNMT3B gene variant influences nicotine dependence identified in people of European (Caucasian) descent and African-American decent as well.

Thus, a DNA variant, located in the DNMT3B gene and commonly found in people of European (Caucasian) and African-American descent,

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Gene expression and ethnicity: Does it matter?

December 05, 2017 – We are entering the age of precision medicine, in which diagnosis and therapy decisions for each patient will be based on detailed genetic and molecular fingerprints. Unfortunately, much of the revolutionary work that underpins precision medicine has been conducted on populations of European (Caucasian) descent,

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Placebomics: Where placebo and genetics meet

December 01, 2017 – The placebome is a new game in town. That is where genetics and the placebo effect meet. The underlying discipline of study may well be “placebomics”, fitting genetics and the uniquely complex phenotype “Placebo Effect” into the -omics age of things.

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  • Protein AKAP8 suppresses breast cancer metastasis January 27, 2020
    A protein naturally produced in the body has been found to suppress breast cancer metastasis in animal models of human tumors. Researchers led by Baylor College of Medicine also found that high levels of this protein, AKAP8, predicts a better survival for breast cancer patients.
  • The virome of HPV-positive tonsil squamous cell carcinoma and neck metastasis January 27, 2020
    The cover for issue 3 of Oncotarget features Figure 3, "Hierarchical clustering of tonsil squamous cell carcinoma cohorts based on viral signature detection pattern with associated pathological features (perineural invasion (PNI), lymphovascular invasion (LVI), and tumor stage (T stage))," by Carey, et al.
  • Asfotase alfa in hypophosphatasia in childhood/adolescence: Survival benefit for infants January 27, 2020
    Hypophosphatasia (HPP) is a rare congenital metabolic disorder. The frequency of severe courses of disease is estimated at 1:100 000: A deficiency of the enzyme phosphatase results in insufficient mineralization of the bones and thus in severe skeletal malformations. The course of disease varies greatly—the earlier the onset of the disease, the more severe are […]
  • Unrecognized genetic variation in research mouse models can affect immune cells January 27, 2020
    Congenic mouse strains—used for decades in immunology research and assumed to be genetically identical outside of a marker locus—have been found to contain previously unrecognized genetic variation, University of Alabama at Birmingham researchers reported in a study published in the journal Immunity.
  • Genomics experts dispute nine genes linked to congenital heart condition January 27, 2020
    Geneticists and heart specialists around the world had previously reported 17 genes to cause long QT syndrome, a little-known inherited heart condition. However, the Clinical Genome Resource's (ClinGen) expert panel has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be […]
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