Blog Archives

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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CRISPR/Cas9 for the Treatment of Duchenne Muscular Dystrophy: Prime time already?

December 12, 2018 – The application of CRISPR/Cas9 based molecular technology in the field of gene editing (or genome editing) has recently had its exploded limelight exposure for a couple of reasons. The question arises if this exposure is earned or somewhat premature.

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Breast Cancer: Performance of prognostic signatures

February 17, 2018 – In a new study, published in JAMA Oncology online on February 15, 2018, a comparison of the performance of 6 prognostic signatures for estrogen receptor (ER) –positive breast cancer was performed in a secondary analysis of a randomized clinical trial.

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Theragenomics: Ivacaftor (Kalydeco) in the CFTR mutation-based treatment of cystic fibrosis (CF)

May 18, 2017 – Ivacaftor (Kalydeco) is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator indicated for the treatment of cystic fibrosis (CF) in patients age 2 years and older who are carriers one of the following mutations in the CFTR gene: G551D,

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Massaging of data and outcomes: Can we ever trust clinical trial outcomes reported by Pharma?

January 28, 2017 – One could call it a scandal. The dire reality is that what is described here could be widespread practice in the business of clinical trials performed and outcomes reported by Pharma, namely that only half of the truth may be told to patients,

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The antibody aducanumab reduces Aβ plaques in Alzheimer’s disease

alz-ad-iSeptember 09.  2016 – The pre-clinical animal model and Phase 1b placebo-controlled study in prodromal and mild Alzheimer Disease (AD) patients (n=165), both demonstrate that aducanumab reduced amyloid-beta in the brain and the reduction was dose-dependent. Amyloid-beta plaque is associated with the development of AD and it has for a long time been hypothesized that removing it may slow the clinical decline of people who have AD.

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  • Gene network sparks future autism treatment December 5, 2019
    A mutated gene found in people with intellectual disabilities that could be targeted for treatment has been identified by an international team including University of Queensland researchers.
  • Tick, tock: How stress speeds up your chromosomes' aging clock December 5, 2019
    Ageing is an inevitability for all living organisms, and although we still don't know exactly why our bodies gradually grow ever more decrepit, we are starting to grasp how it happens.
  • Genome testing for siblings of kids with autism may detect ASD before symptoms appear December 5, 2019
    One of the key priorities of interventions for autism spectrum disorder (ASD) is starting early, with some evidence showing infants as young as seven months old could benefit. Yet, most children in North America aren't diagnosed with ASD until they're over four years of age. New research led by The Hospital for Sick Children (SickKids) […]
  • 2019: the year gene therapy came of age December 5, 2019
    In the summer, a mother in Nashville with a seemingly incurable genetic disorder finally found an end to her suffering—by editing her genome.
  • Scientists create 'epigenetic couch potato' mouse December 4, 2019
    Why is it that some people love to exercise, and others hate it? Most people would assume it's all due to genetics, but a new Baylor College of Medicine led study in mice shows for the first time that a different molecular level of regulation—epigenetics—plays a key role in determining one's innate drive to exercise. […]
  • New report shows dramatic health benefits following air pollution reduction December 6, 2019
    Reductions in air pollution yielded fast and dramatic impacts on health-outcomes, as well as decreases in all-cause morbidity, according to findings in 'Health Benefits of Air Pollution Reduction,' new research published in the American Thoracic Society's journal, Annals of the American Thoracic Society.
  • Scientists see defects in potential new semiconductor December 5, 2019
    A research team has reported seeing, for the first time, atomic scale defects that dictate the properties of a new and powerful semiconductor. The study, published earlier this month in the journal Physical Review X, shows a fundamental aspect of how the semiconductor, beta gallium oxide, controls electricity.
  • Squid pigments have antimicrobial properties December 5, 2019
    Ommochromes, the pigments that color the skin of squids and other invertebrates, could be used in the food and health sectors for their antioxidant and antimicrobial properties. This is confirmed by the analyses carried out by researchers from the University of Sonora in Mexico and the Miguel Hernández University in Spain.
  • The Lancet: First long-term estimates suggest link between cholesterol levels and risk of heart disease and stroke December 5, 2019
    The observational and modelling study which used individual-level data from almost 400,000 people, published in The Lancet, extends existing research because it suggests that increasing levels of non-HDL cholesterol may predict long-term cardiovascular risk by the age of 75 years. Past risk estimates of this kind are based on 10-year follow-up data.
  • Wildlife in tropics hardest hit by forests being broken up December 5, 2019
    Tropical species are six times more sensitive to forests being broken up for logging or farming than temperate species, says new research.
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