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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

  • Multi-omics approach offers new insights into peanut allergy severity December 13, 2019
    Researchers at the Icahn School of Medicine at Mount Sinai have identified novel genes associated with the severity of peanut allergy, as well as ways in which these genes interact with other genes during allergic reactions.
  • DNA tests make fun holiday gifts, but beware of the hype December 13, 2019
    You've likely heard about direct-to-consumer DNA testing kits. In the past few years, at-home genetic testing has been featured in the lyrics of chart-topping songs, and has helped police solve decades-old cold cases, including identifying the Golden State Killer in California.
  • Research reveals how muscles talk to the brain to regulate feeding behavior December 13, 2019
    The brain determines when it is time to feed—but how does it know? Findings from St. Jude Children's Research Hospital provide new understanding of how the brain orchestrates this process. Skeletal muscle, like other tissues, communicates with the brain to convey information about nutritional status. The researchers showed that manipulating this mechanism influences food seeking […]
  • New drugs more likely to be approved if backed up by genetics December 12, 2019
    A new drug candidate is more likely to be approved for use if it targets a gene known to be linked to the disease; a finding that can help pharmaceutical companies to focus their drug development efforts. Emily King and colleagues from AbbVie report these findings in a new study published 12th December in PLOS […]
  • Largest study of its kind reveals that many psychiatric disorders arise from common genes December 12, 2019
    Many distinct psychiatric diseases share a common genetic structure, according to new research by scientists at Massachusetts General Hospital (MGH) and the Psychiatric Genomics Consortium, an international team of investigators. Psychiatric disorders affect more than 25 percent of the population in a given year. In the largest-ever study of its kind, published in the journal […]

RSS random science

  • Emergency department study reveals patterns of patients at increased risk for suicide December 13, 2019
    A new NIMH-funded study has found that people who presented to California emergency departments with deliberate self-harm had a suicide rate in the year after their visit 56.8 times higher than demographically similar Californians. People who presented with suicidal ideation had suicide rates 31.4 times higher than demographically similar Californians in the year after discharge. […]
  • Patient-reported outcomes predict aromatase inhibitor adherence December 13, 2019
    If you want to predict which breast cancer patients will most likely stop taking aromatase inhibitors, check out their own responses to the health questions patients commonly answer in cancer clinical trials, according to research findings to be presented Friday, Dec. 13, 2019 at the San Antonio Breast Cancer Symposium.
  • Saliva test shows promise for earlier and easier detection of mouth and throat cancer December 13, 2019
    Unfortunately, cancers that occur in the back of the mouth and upper throat are often not diagnosed until they become advanced. A report in The Journal of Molecular Diagnostics describes the use of acoustofluidics, a new non-invasive method that analyzes saliva for the presence of human papilloma virus (HPV)-16, the pathogenic strain associated with oropharyngeal […]
  • Barrels of ancient Antarctic air aim to track history of rare gas December 13, 2019
    An Antarctic field campaign last winter led by the US and Australia has successfully extracted some of the largest samples of air dating from the 1870s until today. Researchers will use the samples to look for changes in the molecules that scrub the atmosphere of methane and other gases.
  • Perinatal exposure to flame retardant alters epigenome, predisposing metabolic disease December 13, 2019
    A UMass Amherst study showed that environmentally relevant exposure to polybrominated diphenyl ether (PBDE), a brominated flame retardant, through the umbilical cord and breast milk permanently changed liver metabolism in rats.
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