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Le phénotype broker: Blockchain et phénotype du patient

29 juillet 2019 – “Blockchains for secure digitized medicine”. Tel est le titre d’un article très intéressant et important paru dans le Journal of Personalized Medine (JPM) du 28 mai 2019.

La Blockchain en tant que technologie émergente (en particulier autour du battage publicitaire sur les Bitcoins) gagne en popularité,

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Où se rencontrent les portraits avec génétique et intelligence artificielle

 juin 13, 2019 – C’est juste une science et une médecine fascinantes. Les chercheurs testent actuellement des réseaux de neurones combinant automatiquement des portraits avec des données génétiques et phénotypiques sur des patients afin d’obtenir un diagnostic définitif des maladies rares héréditaires à l’aide de l’intelligence artificielle (IA).

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  • Researchers retract paper that suggested Chinese CRISPR twins might die early octobre 15, 2019
    A pair of researchers from the University of California has retracted a paper they had published in the journal Nature Medicine in which they claimed to have found evidence that the Chinese CRISPR twins might die early. In their retraction, Xinzhu Wei and Rasmus Nielsen report that the reason for the retraction was genotyping bias […]
  • In-office gene therapy for wet age-related macular degeneration is coming octobre 11, 2019
    Gene therapy is showing promise for one of the most common causes of blindness. Data presented today shows that six patients with wet age-related macular degeneration (AMD) have, so far, gone at least six months without the need for continued injections to control a disease that typically requires treatment every four to six weeks. Researchers […]
  • Powerful new genomics method can be used to reveal the causes of rare genetic diseases octobre 11, 2019
    A team led by a scientist at Scripps Research has invented a new genomics technique for tracking down the causes of rare genetic diseases.
  • Jumping genes can cause rare developmental disorders in children octobre 11, 2019
    The largest study of its kind into childhood developmental disorders has discovered that jumping genes cause genetic changes in some patients with undiagnosed neurodevelopmental diseases. The research from the Wellcome Sanger Institute and its collaborators in the NHS Regional Genetics services enabled genetic diagnoses for three children with previously undiagnosed rare developmental diseases who were […]
  • New customized drug treatment bypasses a single child's unique mutation within a year of diagnosis octobre 10, 2019
    An unprecedented case at Boston Children's Hospital shows that it's possible to do something that's never been done before: identify a patient's unique mutation, design a customized drug to bypass it, manufacture and test the drug, and obtain permission from the Food and Drug Administration (FDA) to begin treating the patient—all in less than one […]
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