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

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Is laziness a personal choice or a genetic trait?

November 02, 2019 – Is laziness a choice or genetic trait? At the age where genetics seems to explain everything, it is certainly interessant to learn that a seemingly personal choice such as laziness as such may loom somewhere in your genetic outfit. Perhaps, you can not escape your laziness behaviour,

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After an over the counter genetic test: Would you make serious health decisions?

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Hidden secrets in African genomes revealed by large scale sequencing

October 20, 2019 – Sequencing African genomes yields new data resource with broad applicability. By collaborating globally in a new, large-scale effort, researchers have made strong progress in sequencing genomes from regions and countries across Africa. These findings will enable more broadly representative and relevant studies ranging from basic through clinical genetics.

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Clinical evidence and implementation challenges for pharmacogenomic testing

September 18, 2019 – This post is an edited version of parts of a paper that appeared in the Journal of Personalised Medicine (JPM) a week ago und which addresses one of the important topics in connection with the themes of personalised medicine,

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Staying wakeful for the day: A second short sleep gene identified

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FDA safety communication concerning E-cigarettes

September 05, 2019 – An E-cigarette is a handheld battery-powered vaporizer that simulates smoking by providing some of the behavioral aspects of smoking, including the hand-to-mouth action of smoking, but without burning tobacco. Using an E-cigarette is known as “vaping” and the user is referred to as a “vaper.”

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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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Therapies that promote progressive multifocal leukoencephalopathy (PML)

August 23, 2019 – Progressive multifocal leukoencephalopathy (PML) is a rare and often fatal viral disease characterized by progressive damage or inflammation of the white matter of the brain at multiple locations (i.e., multifocal). It is caused by the JC virus,

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Onasemnogene abeparvovec-xioi (Zolgensma): Approval strategy with manipulated data?

August 13, 2019 – Onasemnogene abeparvovec-xioi (Zolgensma) is an adeno-associated virus vector-based gene therapy indicated for the treatment of pediatric patients less than 2 years of age with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene.

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  • Researchers identify new gene mutation in familial thyroid cancers November 20, 2019
    Researchers from Penn State College of Medicine identified a new gene mutation that may cause a type of familial thyroid cancer. Dr. Darrin Bann, an otolaryngology resident at the College of Medicine and lead author of the study, said that this mutation is the first and only mutation associated with familial thyroid cancer to be […]
  • Researchers develop new database of druggable fusion targets November 20, 2019
    When sections from two separate genes merge due to various factors, such as translocation or splicing, the hybrid that is formed is called a gene fusion. In recent years, it has been discovered that these fusion events play a vital role in the development of cancers and other complex diseases. However, there are very few […]
  • Early results of CRISPR gene-editing treatment shows promise in first human trials November 20, 2019
    Officials from Vertex Pharmaceuticals and CRISPR Therapeutics have announced that preliminary results from testing CRISPR gene-editing treatment in human patients with blood disorders show promise thus far. The joint project between the two firms is taking place at one location in Europe and another in the United States. The results have been posted on the […]
  • Whole-genome sequencing analysis to find more exact biomarkers November 20, 2019
    A new study from Uppsala University shows that whole-genome sequencing increases the precision of genetic studies, which in turn can improve our understanding of how to use biomarkers to discover disease. The results are published in the scientific journal Scientific Reports.
  • Complex organ models grown in the lab November 19, 2019
    Scientists at the University of Würzburg have successfully produced human tissues from stem cells. They have a complexity similar to that of normal tissue and are far superior to previous structures.
  • New study confirms American children and teens are consuming significantly less sugary drinks November 21, 2019
    According to a new study in the American Journal of Preventive Medicine, published by Elsevier, the share of children and adolescents consuming sugar-sweetened beverages (SSBs) and the calories they consume from SSBs declined significantly between 2003 and 2014.
  • New Alzheimer risk gene discovered November 21, 2019
    A new paper in the Journal of Neuropathology & Experimental Neurology finds a gene that may help explain a large part of the genetic risk for developing Alzheimer disease.
  • New type of e-cigarette vaping injury described in CMAJ November 21, 2019
    A research case report describing lung injury related to e-cigarette use in a 17-year-old Canadian may be the first documented case of a new form of damage from vaping products. The article, published in CMAJ (Canadian Medical Association Journal) provides new evidence on forms of lung injury that can result from vaping.
  • CUHK Faculty of Engineering develops novel imaging approach November 21, 2019
    By combining a compressive sensing algorithm with a digital holographic microscope, Prof. Shih-Chi CHEN of the Department of Mechanical and Automation Engineering, Faculty of Engineering, The Chinese University of Hong Kong (CUHK) and his research team have developed a high-speed imaging method. The new approach is able to produce two-photon microscopy images of a 3D […]
  • Cybershoppers make better buying decisions on PCs than phones -- Ben-Gurion U. researchers November 21, 2019
    This is the first study that differentiates between screen size and information reduction, which are often mixed up. The findings will be presented next month at the International Conference on Information Systems, the top academic conference in the field.
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