Blog Archives

Tapping into the massive potential of African genomes: 54gene

February 22, 2020 – Genetic studies rely almost entirely on genomes from people of Caucasian descent. While all around the world, tissue and blood banks have sprung up to catalog human genome’s many mysteries, this was not the case for Africa. Until now,

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Variables of prospective response rates of PD-1/PD-L1 based therapies across cancers

August 28, 2019 – Immune checkpoint inhibitor (ICI) therapy is a form of cancer immunotherapy. The therapy targets immune checkpoints, key regulators of the immune system that when stimulated can dampen the immune response to an immunologic stimulus.

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The phenotype broker: Blockchain and patient phenotype

July 26, 2019 – “Blockchains for secure digitized medicine”. This is the title of a very interesting and important article in the Journal of Personalised Medine (JPM) as of May 28, 2019.

Blockchain as an emerging technology (particularly around the hype on Bitcoins) has been gaining in popularity,

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Where portrait photos meet genetics and AI

June 13, 2019 – This is simply fascinating stuff. Researchers are testing neural networks that automatically combine portrait photos with genetic and phenotypic patient data in order to obtain definitive diagnosis of hereditary rare diseases, all with the help of artificial intelligence (AI).  

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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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Chinese arrhythmia in traditional medicine

May 04, 2018 – All natural is healthy. This is a common belief for many, particularly when shopping for alternative medicines and dietary supplements. For many, however, the contrary might be fatally true.

As a point in case, new research shows, that substances in Traditional Chinese Medicine  (TCM) can cause severe cardiac arrhythmia. 

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Placebo: A veritable treatment option

February 11, 2018 – Long after cancer treatment ends, many patients continue to deal with one particular symptom that refuses to go away: fatigue. In a new study, researchers have found that the power of placebos, even when fully disclosed to patients, might be harnessed to reduce fatigue in cancer survivors.

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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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Spinal Muscular Atrophy: Single-Dose Gene-Replacement Therapy

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  • Mayo researchers recommend all women with breast cancer diagnosis under age 66 be offered genetic testing February 21, 2020
    A study by researchers at Mayo Clinic published this week in the Journal of Clinical Oncology suggests that all women with a breast cancer diagnosis under the age of 66 be offered germline genetic testing to determine if they have a gene mutation known to increase the risk of developing other cancers and cancers among […]
  • Cross-talk between enzymes that read and correct recipes in the cookbook of life February 21, 2020
    DNA is the hereditary material in humans, a unique cookbook of who we are. This is where you'll find the answer as to why you have your specific eye and hair colour, or perhaps why you sunburn easily.
  • Study finds certain genetic tests not useful in predicting heart disease risk February 21, 2020
    A Polygenic Risk Score—a genetic assessment that doctors have hoped could predict coronary heart disease (CHD) in patients—has been found not to be a useful predictive biomarker for disease risk, according to a Vanderbilt study published in the Journal of the American Medical Association.
  • Major discovery in the genetics of Down syndrome February 21, 2020
    Researchers at CHU Sainte-Justine and Université de Montréal have discovered a new mechanism involved in the expression of Down syndrome, one of the main causes of intellectual disability and congenital heart defects in children. The study's findings were published today in Current Biology.
  • MicroRNA exhibit unexpected function in driving cancer February 20, 2020
    Researchers long thought that only one strand of a double-stranded microRNA can silence genes. Though recent evidence has challenged that dogma, it's unclear what the other strand does, and how the two may be involved in cancer. New research from Thomas Jefferson University has revealed that both strands of some microRNA coordinate to act on […]
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