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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  • 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 […]
  • Ethnobotanical medicine is effective against the bacterium causing Lyme disease February 21, 2020
    A preclinical in vitro study shows that selected plant-based herbal medicines, especially Ghanaian quinine and Japanese knotweed, work better than antibiotics against the bacterium that causes Lyme disease. These findings represent an important step towards the development of treatments that might be better tolerated and more effective than the current standard of care.
  • Opportunity blows for offshore wind in China February 21, 2020
    If China is to meet and exceed its Paris Climate Agreement goal by 2030, it's going to need to find a way to increase its wind capacity. Researchers from the Harvard John A. Paulson School of Engineering and Applied Sciences (SEAS) and Huazhong University of Science and Technology in China, found that offshore wind could […]
  • Alcohol-induced deaths in US February 21, 2020
    National vital statistics data from 2000 to 2016 were used to examine how rates of alcohol-induced deaths (defined as those deaths due to alcohol consumption that could be avoided if alcohol weren't involved) have changed in the US and to compare the results by demographic groups including sex, race/ethnicity, age, socioeconomic status and geographic location. […]
  • The integrated catalysts can simplify pharmaceutical manufacturing February 21, 2020
    Prof. In Su Lee and his research team from POSTECH developed catalytic platforms based on metal organic frameworks.
  • Shaping the rings of molecules February 21, 2020
    Canadian chemists discover a natural process to control the shape of 'macrocycles,' molecules of large rings of atoms, for use in pharmaceuticals and electronics.
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