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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

  • Spinal muscular atrophy (SMA): Newborn screening promises a benefit avril 6, 2020
    On behalf of the Federal Joint Committee (G-BA), the Institute for Quality and Efficiency in Health Care (IQWiG) investigated whether it is meaningful to test newborns in Germany for spinal muscular atrophy (SMA) in combination with earlier diagnosis and treatment. The Institute's final report is now available.
  • Alport syndrome severity can be predicted by causative protein genotype avril 6, 2020
    A Japanese research team has successfully developed a system to predict the severity of Alport syndrome, a serious hereditary kidney disease that occurs in about 1 out of 5,000 people in the US. Patients with Alport syndrome have abnormalities in the causative protein, type IV collagen, that often lead to chronic renal dysfunction requiring dialysis. […]
  • Research: Hereditary mutation drives aggressive head and neck, lung cancers in Asian population avril 6, 2020
    Researchers from the Cancer Science Institute of Singapore (CSI Singapore) at the National University of Singapore (NUS) have uncovered a genetic variant in a gene called MET that is responsible for more aggressive growth of head and neck, and lung cancers. A further probe into the finding revealed therapeutic strategies that could potentially target this […]
  • New insights into the genetic risk factors and disease pathways of multiple sclerosis avril 6, 2020
    Multiple sclerosis (MS) is a debilitating disease in which the body's own immune system attacks itself and can, over time, permanently destroy the protective sheaths, or myelin, around nerve fibers in the brain. Myelin insulates nerve cells and facilitates the transmission of messages along them. When the myelin sheath is damaged, the nerves themselves may […]
  • Findings in mice reveal possibilities for fetal drug therapy for deafness avril 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.

RSS random science

  • Magnetoacoustic waves: Towards a new paradigm of on-chip communication avril 6, 2020
    Researchers have observed directly and for the first time magnetoacoustic waves (sound-driven spin waves), which are considered as potential information carriers for novel computation schemes. These waves have been generated and observed on hybrid magnetic/piezoelectric devices. The experiments were designed by a collaboration between the University of Barcelona (UB), the Institute of Materials Science of […]
  • An updated overview of the complex clinical spectrum of tourette syndrome avril 6, 2020
    Background: Tourette syndrome is a common nerve development disorder which is characterized by a variety of muscle or vocal movements called 'tics', often involuntary. The disorder is reflectively and quite erroneously associated by many as a just syndrome with tics and the frequent use of undesirable language (swearing). However, Tourette syndrome is a complex neuropsychiatric […]
  • Oil spill: where and when will it reach the beach? Answers to prevent environmental impacts avril 6, 2020
    When an accident involving oil spills occurs, forecasting the behaviour of the oil slick and understanding in advance where and when it will reach the coastline is crucial to organize an efficient emergency response that is able to limit environmental and economic repercussions. A study led by CMCC Foundation's researchers, based on the concrete case […]
  • Which healthy lifestyle factors associated with more years free of chronic disease? avril 6, 2020
    What combination of healthy lifestyle factors were associated with the most years lived without chronic diseases was the focus of this analysis that included data from more than 100,000 adults who were participants in 12 European studies.
  • Leaving its mark: How frailty impacts the blood avril 6, 2020
    Fifteen blood metabolites are key for diagnosing the age-related disorder, frailty, new study finds.
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