Blog Archives

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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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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Amish People: Old age because of genetic mutations?

November 20, 2017 – Thanks to old aged Amish people, the first ever anti-ageing genetic mutation(s) have been discovered. According to a study published in the Journal Science Advances revealed a research team from a Northwestern University Feinberg School of Medicine, Chicago, IL, USA that seemingly an Indiana Amish

community holds the (genetic) key to living  about 10% longer.

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CDH2 gene to cause sudden death in young people

March 10, 2017 – A new gene that can lead to sudden death among young people and athletes has now been identified by an international team of researchers. The gene, called CDH2, causes arrhythmogenic right ventricle cardiomyopathy (ARVC), which is a genetic disorder that predisposes patients to cardiac arrest and is a major cause of unexpected death in seemingly healthy young people.

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Eteplirsen (Exondys 51) for Duchenne Muscular Dystrophy (DMD) approved

September 19, 2016 – This post presents below a virtually unedited announcement by the American Food & Drug Administration (FDA) concerning Duchenne Muscular Dystrophy (DMD) therapy  option which gives much hope for at least some of the affected patients.

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  • Researchers find genetic links to child obesity across diverse ethnic groups August 22, 2019
    An international team of researchers who analyzed data across multiple ethnicities has produced the largest genetic study to date associated with common childhood obesity. The Early Growth Genetics (EGG) Consortium discovered a robust new signal, fine-mapped previously reported genetic variants, and added to evidence that genetic influences on obesity operate across the lifespan.
  • Researchers develop model to personalize radiation treatment August 22, 2019
    A personalized approach to cancer treatment has become more common over the last several decades, with numerous targeted drugs approved to treat particular tumor types with specific mutations or patterns. However, this same personalized strategy has not translated to radiation therapy, and a one-size-fits-all approach for most patients is still common practice. Moffitt Cancer Center […]
  • How our genes and environment influence BMI and height August 22, 2019
    Environmental conditions influence our body mass index (BMI) by increasing or decreasing the effect of inherited genetic variations, University of Queensland researchers have discovered.
  • Genetic testing and family tree research are revealing painful family secrets, research says August 22, 2019
    Genealogical research and genetic testing are revealing skeletons in family closets and causing rifts among members, a new study shows.
  • Researchers use single-cell sequencing to get a better look at human embryo implantation August 22, 2019
    A team of researchers affiliated with multiple institutions in China has used single-cell sequencing to learn more about the human embryo during implantation in the uterus. In their paper published in the journal Nature, the group describes sequencing thousands of human embryo cells from before, during and after implantation, and what they learned from it.
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