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MCAD: Une nouvelle maladie diagnostiquée à la naissance

Posted on by par Posté dans Génétique, Medicine Théragenomique, Prédisposition génétique, Thasso Poste Aucun commentaire ↓

14 novembre 2019 – Le dépistage néonatal, qui porte aujourd’hui sur cinq maladies graves, va être complété par la détection d’une maladie supplémentaire dès le premier trimestre 2020, selon la ministre de la Santé en France. Donc, dès 2020, le déficit en MCAD, une maladie génétique parfois létale,

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Maladie génétique: vivre avec la drépanocytose

Posted on by par Posté dans La Presse, Medicine Théragenomique, Thasso Poste, Thérapie Génique 1 commentaire ↓

décembre 10, 2017 – Maladie génétique: comment vivre avec la drépanocytose? De jeunes malades apprennent à vivre avec la drépanocytose alors que dans un même temps, la recherche tente de mettre au point des traitements innovants.

Dépasser ses limites pour surmonter la maladie.

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RSS random genetics

  • The co-occurrence of cancer driver genes, key to precision medicine septembre 22, 2020
    Cancer driver genes are those with mutations that are essential for tumor development and spread. Led by ICREA researcher Patrick Aloy, scientists from the Structural Bioinformatics and Network Biology (SBNB) Laboratory at IRB Barcelona have developed a computational pipeline that predicts tumor response to different cancer treatments. This system is based on the identification of […]
  • Genomic adaptations to a rice-based diet mitigate the risk of obesity and diabetes septembre 21, 2020
    The traditional rice-based diet of some east-Asian population has brought a number of genomic adaptations that may contribute to mitigating the spread of diabetes and obesity. An international study led by the University of Bologna and published in the journal Evolutionary Applications has recently suggested this interesting hypothesis. Researchers analyzed and compared the genomes of […]
  • Researchers identify genetic factors associated with hand-foot syndrome in chemotherapy with capecitabine septembre 21, 2020
    Capecitabine is a chemotherapy drug used for breast and colorectal cancer. It can extend survival rate by nearly 10%. However, recent studies revealed that almost 50% of patients develop palmar-plantar erythrodysesthesia, a skin reaction also called hand-foot syndrome with mild to serious symptoms. Up to 17% of these patients can have a burning pain in […]
  • Gene therapy corrects the cardiac effects of Friedreich's ataxia septembre 18, 2020
    Gene therapy was successfully used to overcome the cardiac effects of Freidreich's ataxia (FA) in a mouse model of the disease, as reported in the peer-reviewed journal Human Gene Therapy.
  • Algorithms uncover cancers' hidden genetic losses and gains septembre 17, 2020
    Understanding the specific mutations that contribute to different forms of cancer is critical to improving diagnosis and treatment. But limitations in DNA sequencing technology make it difficult to detect some major mutations often linked to cancer, such as the loss or duplication of parts of chromosomes.

RSS random science

  • Thin and ultra-fast photodetector sees the full spectrum septembre 22, 2020
    Researchers have developed the world's first photodetector that can see all shades of light, in a prototype device that radically shrinks one of the most fundamental elements of modern technology.
  • New drug candidate found for hand, foot and mouth disease septembre 22, 2020
    Duke researchers have identified a potential drug candidate against enterovirus 71, a common cause of hand, foot and mouth disease in infants and young children. The compound of interest is a small molecule that binds to RNA, the virus's genetic material, and changes its 3-D shape in a way that stops the virus from multiplying […]
  • Web resources bring new insight into COVID-19 septembre 22, 2020
    Two new web resources put at researchers' fingertips information about cellular genes whose expression is affected by coronavirus infection and place these data points in the context of the complex network of host molecular signaling pathways.
  • New freshwater database tells water quality story for 12K lakes globally septembre 22, 2020
    Although less than one per cent of all water in the world is freshwater, it is what we drink and use for agriculture. In other words, it's vital to human survival. York University researchers have just created a publicly available water quality database for close to 12,000 freshwater lakes globally - almost half of the […]
  • Nearly 20 percent of americans don't have enough to eat septembre 22, 2020
    More than 18 percent of US adults do not know whether they will have enough to eat from day to day, and the numbers are worse for Hispanics, Blacks, people with obesity, and women, a new report shows.
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