My long term research interests iinclude studying the underlying genetic mechanisms of Down syndrome (DS) with the ultimate goal of identifying possible new therapeutic approaches.
My academic training and research experience have provided me with an excellent background in multiple biological disciplines including molecular biology, genetics and bioinformatics. I have been published in the field of genomics, developing innovative and integrated approaches for structural and functional characterization of the human genome, with particular attention to human chromosome 21.
Recently, my research interest focused on DS, in particular on a systematic analysis of partial trisomy 21 cases with or without DS. A highly restricted DSCR (HR-DSCR) of only 34 kb on distal 21q22.13 has been proposed as candidate for the typical DS features, in particular ID. My current research consists in searching for HR-DSCR functional loci for understanding the fundamental genotype-phenotype relationships in DS.
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