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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

  • Researchers develop new approach to study the genetics of human disease juillet 7, 2020
    Many heritable immune diseases such as rheumatoid arthritis and blood-cell related traits derive from critical proteins not being made or not functioning correctly. But exactly how a person's genes, the regulation of these genes and how the resulting proteins interact to cause disease is not widely understood.
  • Common inherited genetic variant identified as frequent cause of deafness in adults juillet 6, 2020
    A common inherited genetic variant is a frequent cause of deafness in adults, meaning that many thousands of people are potentially at risk, reveals research published online in the Journal of Medical Genetics.
  • Rsearchers create an analytic tool that opens a new frontier of cancer discovery juillet 6, 2020
    Gene coding regions constitute 2% of the human genome. St. Jude Children's Research Hospital scientists have developed a computational tool to identify alterations that drive tumor formation in the remaining 98% of the genome. The method will aid discovery of oncogenes and advances in precision medicine for children and adults with cancer.
  • Discovery of new disease-susceptibility gene for steroid-sensitive nephrotic syndrome juillet 3, 2020
    An international research collaboration, including Professor Iijima Kazumoto et al. (of the Department of Pediatrics, Kobe University Graduate School of Medicine) has revealed that NPHS1 is a disease-susceptibility gene for steroid-sensitive nephrotic syndrome in children. The NPHS1 gene encodes nephrin, a component protein for the renal glomerulus slit diaphragm, which prevents protein from being passed […]
  • How digital tools can advance quality and equity in genomic medicine juillet 3, 2020
    The pandemic has forced health care providers to find new ways to connect with patients through screens. For genetic specialists, who provide patients and families with genetic testing for conditions linked to DNA, connecting with patients is an important part of helping them make informed medical decisions.

RSS random science

  • Mental health benefits of parks dimmed by safety concerns juillet 7, 2020
    No matter how close parks are to home, perceptions of park-centered crime may keep New Yorkers from using them.
  • Measuring tape is a critical tool for following Zika virus-exposed children juillet 7, 2020
    A simple measuring tape could be the key to identifying which children could developneurological and developmental abnormalities from Zika virus exposure during gestation.This is according to an invited commentary published July 7 in JAMA Network Open andwritten by Sarah Mulkey, M.D., Ph.D., prenatal-neonatal neurologist in the Division ofPrenatal Pediatrics at Children's National Hospital.
  • Repurposing public health systems to decode COVID-19 juillet 7, 2020
    Research published in the journal Microbial Genomics describes how national surveillance systems can be linked with the UK Biobank. This pooled data could then be used to understand how genetics and other epidemiological factors impact risk of developing severe infection.
  • Microplastic pollution harms lobster larvae, study finds juillet 7, 2020
    Microplastic fiber pollution in the ocean impacts larval lobsters at each stage of their development, according to new research. A study published in the Marine Pollution Bulletin reports that the fibers affect the animals' feeding and respiration, and they could even prevent some larvae from reaching adulthood.
  • Why it's no last orders for the Tequila bat juillet 6, 2020
    Scientists studying the 'near threatened' tequila bat, best known for its role in pollinating the Blue Agave plant from which the drink of the same name is made from, have analysed its DNA to help inform conservationists on managing their populations. The findings are published in Global Ecology and Conservation.
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