Monthly Archives: May 2017

First cancer treatment for any solid tumor with MSI-H or dMMR approved

May 24, 2917 – The American Food & Drug Administration (FDA) just approved a major extension of the clinical indications for Pembrolizumab (Keytruda). For the first time,  a cancer treatment has been approved for any solid tumor, irrespective of the tumor’s original location, as long as the targeted tumor is carrying a specific genetic feature (i.e.,

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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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Motivation and dangers of sharing personal genetic data in the open space

18 May 2017 – According to a paper just published in PLOS One, research team from the University of Zurich found that individuals who agree to openly share their direct-to-consumer (DTC) genetic testing data are apparently most interested in learning more about themselves,

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Risk of leg and foot amputations under Canagliflozin (Invokana, Invokamet)

May 17, 2017 – Following up on an earlier Drug Safety Communication from May 2016 and based on new data from two large clinical trials, the American Food & Drug Administration (FDA) has concluded that the type 2 diabetes medicines Canagliflozin (Invokana), Canagliflozin/Metformin (Invokamet),  and Canagliflozin/Metformin (Invokamet XR) cause an increased risk of leg and foot amputations.

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Populations of African descent: New trait loci for hypertension

May 14, 2017 – Hypertension is a leading cause of global disease, mortality, and disability. Individuals of African descent suffer a disproportionate burden of hypertension and its complications. To date, there has been little information on the possible genetic background (i.e.,

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Lifeomics: Epigenetic DNA methylation-based life insurance?

Mai 07, 2017 – Genetics- and/or genomics-based approaches are penetrating every single aspect of human life. In contrast to the term theragenomics (therapy decisions with the help of  genetic/genomic information obtaineble from the patient concerned), we may coin the term lifeomics referring to decisions being taken concerning the daily life of an individual based on genetic/genomic information obtainable from this particular individual (or obtained,

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Bisphosphonates: GGPS1 Mutation and Atypical Femoral Fractures

May 05, 2017 – This report nicely illustrates how, by both clever study design and selection of according phenotypic patients, genetic predispositions for even very rare serious adverse drug reactions (sARD) can be elucidated, which eventually may lead to theragenomics-based therapy approaches with the goal to minimise sARD-risks for treated patients.

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Is there a genetic predisposition for usage of social media?

May 03, 2017 – Is there a genetic predisposition for usage of social media? The answer may be a qualified YES. It’s easy to think in terms of linking genetics to behavior in simple ways. Are you calm or do you have a temper?

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  • Findings in mice reveal possibilities for fetal drug therapy for deafness April 6, 2020
    New research led by hearing scientists at Oregon Health & Science University suggests an avenue to treat and prevent intractable genetic disorders before birth.
  • Study of rare genetic disorder that effects the eyes April 3, 2020
    Nagano prefecture is home to a group of people affected with a rare genetic neurodegenerative disorder called familial amyloid polyneuropathies (FAP). This disease impacts the gene encoding protein transthyretin (TTR) which is produced in the liver and also eyes. Liver transplants are often a treatment for this disease, but severe eyesight problems such as cloudiness […]
  • Natural sunscreen gene influences how we make vitamin D April 2, 2020
    Genetic variations in the skin can create a natural sunscreen, according to University of Queensland researchers investigating the genes linked with vitamin D.
  • Single mutation leads to big effects in autism-related gene April 2, 2020
    A new study in Neuron offers clues to why autism spectrum disorder (ASD) is more common in boys than in girls. National Institutes of Health scientists found that a single amino acid change in the NLGN4 gene, which has been linked to autism symptoms, may drive this difference in some cases. The study was conducted […]
  • Lifestyle changes could delay memory problems in old age, depending on our genes April 2, 2020
    Researchers from King's College London have shown that how we respond to changes in nutrients at a molecular level plays an important role in the aging process, and this is directed by some key genetic mechanisms.
  • Study of rare genetic disorder that effects the eyes April 3, 2020
    Small gauge vitrectomy for vitreous amyloidosis and subsequent management of secondary glaucoma in patients with hereditary transthyretin amyloidosis.
  • Tissue dynamics provide clues to human disease April 3, 2020
    Scientists in EMBL Barcelona's Ebisuya group, with collaborators from RIKEN, Kyoto University, and Meijo Hospital in Nagoya, Japan, have studied oscillating patterns of gene expression, coordinated across time and space within a tissue grown in vitro, to explore the molecular causes of a rare human hereditary disease known as spondylocostal dysostosis. Their results are published […]
  • Coronavirus: Virological findings from patients treated in a Munich hospital April 3, 2020
    In early February, research teams from Charité - Universitätsmedizin Berlin, München Klinik Schwabing and the Bundeswehr Institute of Microbiology published initial findings describing the efficient transmission of SARS-CoV-2. The researchers' detailed report on the clinical course and treatment of Germany's first group of COVID-19 patients has now been published in Nature*. Criteria may now be […]
  • Case study: Treating COVID-19 in a patient with multiple myeloma April 3, 2020
    A case study of a patient in Wuhan, China, suggests that the immunosuppressant tocilizumab may be an effective COVID-19 treatment for very ill patients who also have multiple myeloma and other blood cancers. The report, published in Blood Advances, also suggests that blood cancer patients may have atypical COVID-19 symptoms.
  • Indigenous American ancestry may be associated with HER2-positive breast cancer April 3, 2020
    An increased proportion of Indigenous American (IA) ancestry was associated with a greater incidence of HER2-positive breast cancer, according to a study published in Cancer Research, a journal of the American Association for Cancer Research.
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