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

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November 03, 2019 – Cystic fibrosis (CF) is a lethal, inherited genetic disease affecting more than 70,000 people worldwide. It is usually diagnosed in childhood and causes abnormal buildup of thick mucus in the lungs and digestive tract that leads to trouble breathing,

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Is laziness a personal choice or a genetic trait?

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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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October 27, 2019 – Genetic tests sold online and in shops are en vogue. More and more patients strive for it, and they (the patients) are getting back results. Results, the normal patient has no chance to understand. Not even most of treating physicians are capable to interpret in favour of their patients.

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Hidden secrets in African genomes revealed by large scale sequencing

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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

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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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September 06, 2019 – Wakefulness varies largely among human individuals. Barring individuals suffering from diseases such as narcolepsy that may heavily dictate an individual’s daily sleep and wakefulness pattern, there are individuals in the general population who needs a lot of sleep and there are those who seemingly never sleep and still feel fit and good at performing their daily tasks.

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FDA safety communication concerning E-cigarettes

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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

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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)

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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?

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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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RSS random genetics

  • Study explores cognitive function in people with mental illness January 22, 2020
    A study funded by the Veterans Administration and directed by researchers at the University of Miami Miller School of Medicine has shown few differences in the profiles of genes that influence cognition between people with schizophrenia, bipolar disorder and the general population. This surprising finding could provide new insights into therapies designed to improve cognition. […]
  • Hope for patients with a rare genetic condition linked to severe infections January 22, 2020
    A team of researchers at CHU Sainte-Justine and Université de Montréal has shed light on the mechanisms that underlie a rare genetic condition by creating the first cellular model of the disease. The study's findings were published today in the Journal of Allergy and Clinical Immunology.
  • Avatar worms help to identify factors that modify genetic diseases January 21, 2020
    Often, patients from the same family and carriers of the same genetic mutation, develop a disease differently. This disparity may be due to the existence of mutations in other secondary genes, which influence the onset and progression of the disease caused by the main mutation. As an example, members of a family who are carriers […]
  • Algorithm turns cancer gene discovery on its head January 21, 2020
    A method for finding genes that spur tumor growth takes advantage of machine learning algorithms to sift through reams of molecular data collected from studies of cancer cell lines, mouse models and human patients.
  • Blood test for eight gene signatures could predict onset of tuberculosis January 21, 2020
    Scientists at UCL have shown a blood test could predict the onset of tuberculosis three to six months before people become unwell, a finding which could help better target antibiotics and save countless lives.

RSS random science

  • Obesity embargo alert for February 2020 issue January 23, 2020
    All print, broadcast and online journalists who receive the Obesity embargo alert agree to abide by the embargo and may not publish, post, broadcast or distribute embargoed news releases or details of the embargoed studies before the embargo date and time.
  • How old are they? Some non-photosynthetic orchids consist of dead wood January 23, 2020
    A research team led by Kobe University's Associate Professor SUETSUGU Kenji (of the Graduate School of Science's Department of Biology) has investigated the carbon age in some non-photosynthetic mycoheterotrophic plants. Using the radiocarbon emitted from atmospheric nuclear bomb tests carried out in the 1950s and 1960s as a tracer, they revealed that some mycoheterotrophic orchids […]
  • Most rehabilitating sea turtles with infectious tumors don't survive January 22, 2020
    Fibropapillomatosis (FP) is the most significant infectious disease affecting sea turtle populations worldwide. FB leads to tumors on the turtles' eyes, flippers and internal organs and is widespread in warmer climates like Florida. A large-scale study evaluated tumor score, removal and regrowth in rehabilitating green sea turtles with FP in the southeastern US from 2009 […]
  • Tiny price gaps cost investors billions January 22, 2020
    New research shows that, millions of times each day, investors in the US stock market see different prices at the same moment -- and that these differing prices cost investors at least $2 billion dollars each year.
  • Kids born to moms with gestational diabetes and preeclampsia at greater risk for obesity January 22, 2020
    A study in Archives of Gynecology and Obstetrics found that when a mother experiences both gestational diabetes and preeclampsia, her child has a growth trajectory that leads to an increased risk of high childhood BMI over time.
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