Christoph Preuss
    Research Axis
    Fetomaternal and Neonatal Pathologies Axis

    514 345-4931 #3242

    Research Project Title

    Deciphering congenital heart disease traits by exploring human genetic diversity

    University Program



    Université de Montréal

    Research Interests

    Human genetics of cardiac malformations
    What are the causes for heart malformations, which are the most common birth defects in children? Why do specific heart malformations run in certain families while others occur at different frequencies in distinct populations?

    Christoph Preuss’ interest is to understand the genetic architecture of congenital heart disease and the contribution of different functional variants at the individual, as well as at the population level. By applying recent genomic techniques, such as whole exome sequencing and genotyping, he aims at identifying the interplay of genetic variants that contribute to the disease in children.

    Access to study populations in Quebec and a large cohort of families with multiple affected individuals will enable him to understand how rare disease-associated variants are transmitted within families and across the general population.

    The long-range goal will be to decipher the genetic and molecular pathways in which these variants are involved, and to understand the potential impact of specific genetic backgrounds later in life. This will help develop better diagnostic strategies and therapeutic approaches for patients with congenital heart disease.

    Awards and Distinctions

    • 2012, Postdoctoral Scholarships for Excellence, Fondation CHU Sainte-Justine


    • Preuss C. Deciphering complex phenotype-genotype interactions in regions of strong linkage-disequilibrium. Institute seminar at the Max Delbrück Center. Berlin, Germany (February 11, 2012)
    • Preuss C, Stoll M. The concepts and applications for genome-wide association and family studies.Poznan Summer School of Bioinformatics. Poznan, Poland (July 11-15, 2011)
    • Preuss C, Stoll M. On the evolution of complex genetic diseases. Münster Graduate School of Evolution Symposium. Münster, Germany (February 17-18, 2011)

    Selected Publications

    • Preuss C, Andelfinger G. (2013). Genetics of Heart Failure in Congenital Heart Disease. Canadian Journal of Cardiology, (in press)
    • Preuss C, Riemenschneider M, Wiedmann D, Stoll M. (2012). Evolutionary dynamics of co-segregating gene clusters associated with complex diseases. PLoS One, 7(5):e36205.
    • Luchtefeld M*, Preuss C*, Rühle F, Bogalle EP, Sietmann A, Figura S, Müller W, Grote K, Schieffer B, Stoll M. (2011). Gp130-dependent release of acute phase proteins is linked to the activation of innate immune signaling pathways, PLoS One. 6(5): e19427
    • Reusch TB, Veron AS, Preuss C, Weiner J, Wissler L, Beck A, Klages S, Kube M, Reinhardt R, Bornberg-Bauer. (2008).Comparative analysis of expressed sequence tag (EST) libraries in the seagrass Zostera marina subjected to temperature stress. E Mar Biotechnol (NY); 10(3): 297-309

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