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Profile image of Sander Houten

    Sander Houten, PhD

    Education

    MSc, University of Amsterdam

    PhD, University of Amsterdam

    Awards

    2017

    Science Award: Dutch Society for Clinical Chemistry

    Dutch Society for Clinical Chemistry

    2014

    SSIEM Award: Society for the Study of Inborn Errors of Metabolism

    Society for the Study of Inborn Errors of Metabolism

    2010

    Founders' Award (Neil Buist Award): Society for Inherited Metabolic Disorders

    Society for Inherited Metabolic Disorders

    2004

    Wadman – Van Gennip Award: Dutch Society for the Study of Inborn Errors of Metabolism

    Dutch Society for the Study of Inborn Errors of Metabolism

    Research

    Despite their seemingly monogenetic nature, many inborn errors of metabolism, such as fatty acid oxidation disorders, have a remarkably heterogeneous clinical presentation making the disease course and severity difficult to predict. In fact, we propose that there is no clear distinction between simple Mendelian disorders and complex diseases, but rather a spectrum of disease phenotypes representing a continuum of diminishing effects from a single gene defect influenced by modifier genes to increasingly shared influence by variants in multiple genes. This realization highlights the need for an unbiased approach to finding candidate modifier genes for seemingly ‘monogenetic’ diseases and reveals the possibility of applying experimental model systems ‘designed’ for complex diseases to inborn errors of metabolism. Our research demonstrates that by employing this method, we can advance our understanding of inborn errors of metabolism by revealing the molecular networks underlying inborn error disease biology.