Genetics e Rare diseases 

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  • Genetic differences larger between populations in Northern Europe

    Researchers at Karolinska Institutet and Helsinki University have shown that the genetic differences appear larger between the populations in Northern Europe than within Central Europe.

    Karolinska Institutet (Genetics e Rare diseases) - Thu, 30 October 2008
    http://ki.se/ki/jsp/polopoly.jsp?d=130&l=en

  • New properties of skin stem cells

    Recent research from the Swedish medical university Karolinska Institutet reveals completely new properties of the skin's stem cells - discoveries that contradict previous findings.

    Karolinska Institutet (Genetics e Rare diseases) - Thu, 16 October 2008
    http://ki.se/ki/jsp/polopoly.jsp?d=130&l=en

  • Prenatal Genome Testing Sparks Debate

    New technologies that allow scientists to rapidly analyze a person's genome for potentially deleterious variations are now being used by at least 1 company and an academic medical center for prenatal testing, igniting a debate among scientists about the clinical value and ethical implications of the procedure.

    Journal of the American Medical Association (Genetics e Rare diseases) - Wed, 8 October 2008
    http://jama.ama-assn.org/

  • 'Safer' test developed for Down's

    Scientists say they have developed a safer blood test that can tell a women if her unborn baby has Down's syndrome.

    BBC News (Genetics e Rare diseases) - Wed, 8 October 2008
    http://news.bbc.co.uk

  • Treatment for gaucher’s disease

    Gaucher’s disease - the most common lysosomal storage disease - continues to be a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment.

    The Lancet (Genetics e Rare diseases) - Wed, 8 October 2008
    http://www.thelancet.com

  • Risks and Benefits of Direct-to-Consumer Genetic Testing Remain Unclear

    For as little as about $400, a consumer can hire 1 of several companies to scan his or her entire genome for about a million genetic variations in hopes of identifying the presence of variants associated with an elevated risk of developing a disease. But lingering uncertainties about the validity and clinical implications of such results raise the question of whether marketing these tests to consumers is premature.

    Journal of the American Medical Association (Genetics e Rare diseases) - Thu, 2 October 2008
    http://jama.ama-assn.org/

  • Analysis of common brain tumor finds new gene mutations

    The most comprehensive-to-date genomic analysis of a cancer – the deadly brain tumor glioblastoma multiforme – shows previously unrecognized changes in genes and provides an overall view of the missteps in the pathways that govern the growth and behavior of cells.

    Baylor College of Medicine (Genetics e Rare diseases) - Wed, 10 September 2008
    http://www.bcm.edu

  • Experts discuss velo-cardio-facial syndrome at monthly genetics series

    Velo-cardio-facial syndrome (VCFS), a genetic disorder characterized by abnormalities of the palate, heart and face, will be the topic of discussion in a public forum Sept. 23 at The Health Museum of Houston.

    Baylor College of Medicine (Genetics e Rare diseases) - Thu, 4 September 2008
    http://www.bcm.edu

  • Link between gene variant and relationship difficulties

    Scientists at Karolinska Institutet have found a link between a specific gene and the way men bond to their partners. The results, which are presented in the scientific journal PNAS, can lead to a better understanding of such problems as autism and social phobia.

    Karolinska Institutet (Genetics e Rare diseases) - Thu, 4 September 2008
    http://ki.se/ki/jsp/polopoly.jsp?d=130&l=en

  • Lack of fragile X, related gene disrupts sleep

    Lack of both the fragile X syndrome gene and one that is related could account for sleep problems associated with the disorder, which is the common cause of inherited mental impairment.

    Baylor College of Medicine (Genetics e Rare diseases) - Fri, 27 June 2008
    http://www.bcm.edu

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