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  • 30-year study identifies need of disease-modifying therapies for maple syrup urine disease janvier 24, 2020
    A new study analyzes 30 years of patient data and details the clinical course of 184 individuals with genetically diverse forms of Maple Syrup Urine Disease (MSUD), which is among the most volatile and dangerous inherited metabolic disorders. Researchers collected data on survival, hospitalization rates, metabolic crises, liver transplantation, and cognitive outcome. This represents the […]
  • TP53 gene variant in people of African descent linked to iron overload, may improve malaria response janvier 24, 2020
    In a study by The Wistar Institute and collaborators, a rare, African-specific variant of the TP53 gene called P47S causes iron accumulation in macrophages and other cell types and is associated with poorer response to bacterial infections, along with markers of iron overload in African Americans. Macrophage iron accumulation disrupts their function, resulting in more […]
  • Scientists highlight potential of exposome research janvier 23, 2020
    Over the last two decades, the health sciences have been transformed by genomics, which has provided insights into genetic risk factors for human disease. While powerful, the genomics revolution has also revealed the limits of genetic determinants, which account for only a fraction of total disease risk. A new article in the journal Science argues […]
  • Researchers uncover mechanism for how common gene therapy vectors enter cells janvier 23, 2020
    Researchers led by a team at Massachusetts Eye and Ear have identified a novel cellular entry factor for adeno-associated virus vector (AAV) types—the most commonly used viral vectors for in vivo gene therapy. AAVs are vectors—or vehicles—that are created from a virus that is made harmless by molecular engineering, and have shown promise transporting genetic […]
  • Largest-ever study ties over 100 genes to autism janvier 23, 2020
    More than 100 genes appear to be involved in autism spectrum disorders (ASD), according to the largest genetic study of the condition to date.
  • Patients suffer invasive treatments for harmless cancers janvier 26, 2020
    Australians are increasingly being diagnosed with cancers that will do them no harm if left undetected or untreated, exposing them to unnecessary surgeries and chemotherapy, says a new study published online today in the Medical Journal of Australia.
  • The regulators active during iron deficiency janvier 24, 2020
    Iron deficiency is a critical situation for plants, which respond using specific genetic programmes. Biologists from Heinrich Heine University Düsseldorf (HHU) and Michigan State University (MSU) used artificial intelligence methods to examine how to predict regulatory genetic sequences. They have now published the findings from their joint research work in the journal Plant Physiology.
  • NIH study finds benefits of fetal surgery for spina bifida persist through school age janvier 24, 2020
    Children as young as 6 years old who underwent fetal surgery to repair a common birth defect of the spine are more likely to walk independently and have fewer follow-up surgeries, compared to those who had traditional corrective surgery after birth, according to researchers funded by the National Institutes of Health.
  • Lung microbiome may help predict outcomes in critically ill patients janvier 24, 2020
    Changes in the lung microbiome may help predict how well critically ill patients will respond to care, according to new research published online in the American Thoracic Society's American Journal of Respiratory and Critical Care Medicine.
  • Nano-thin flexible touchscreens could be printed like newspaper janvier 24, 2020
    Taking a thin film common in cell phone touchscreens, researchers have used liquid metal chemistry to shrink it from 3D to 2D. The ultra-thin and ultra-flexible electronic material could be printed and rolled out like newspaper, for the touchscreens of the future.
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