Name of Fellow

    Dr. N.A. Aziz




    Contact information of fellow


    The Netherlands

    Title of project/programme

    Triplet repeat polymorphisms as modifiers of health and disease

    Source of funding information


    Total sum awarded (Euro)

    € 250,000

    Start date of award


    Total duration of award in years


    The project/programme is most relevant to:

    Huntington's disease


    Triplet repeat polymorphisms | polyglutamine diseases | Huntington disease | depression | dementia

    Research Abstract

    Diseases such as dementia, depression and diabetes are among the leading causes of
    disability and exert a dramatic burden on society’s social, economic and health care
    systems. In order to understand their pathophysiology and devise more effective
    therapies it is essential to elucidate their genetic basis. However, to date genetic
    association studies have only identified a small fraction of the genetic determinants,
    possibly because of the focus on single-nucleotide polymorphisms and consequently
    neglect of other important genomic variations, especially DNA repeat expansions.
    Expanded DNA repeats above a certain threshold are associated with many hereditary
    neurological disorders, the most common of which are polyglutamine diseases caused by
    intronic triplet (cytosine-adenine-guanine (CAG)) repeat expansions leading to a range of
    cognitive, psychiatric, motor and metabolic abnormalities. Emerging findings, including
    our own pilot data, suggest that even CAG repeat length variations in the normal range

Types: Fellowships
Member States: Netherlands
Diseases: Huntington's disease
Years: 2016
Database Categories: N/A
Database Tags: N/A

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