Valentina Lo Sardo

Pubmed

Research Description:

Genome-wide association studies provide increasing evidence of linkage between common genetic variants and complex disease susceptibility. One of the most challenging problems in studying human disease biology is the influence of mutations in non-coding regions. Yet, these are the most common regions identified with genome association studies. Although the number of genetic variants linked to disease continues to grow, their functional impact on human physiology remains largely obscure. My scientific interest is directed at understanding genetic variations linked to cardiovascular disease and cancer susceptibility and identifying their functional consequences at the cellular level.

Research in my lab combines pluripotent stem cell potential and functional genomics to understand how common genetic variants among individuals, including those in non-coding portions of the genome, contribute to altering cell physiology, cell state, and fate commitment. Emphasis is posed on understanding non-coding risk factors, cell-type vulnerability, as well as ethnicity-based vulnerability to human diseases. Using multidisciplinary approaches, including pluripotent stem cell differentiation, genome editing, transcriptomics, imaging, and proteomics, my lab aims to identify new molecular mechanisms triggering cardiovascular disease and cancer.

Selected References:

• Lo Sardo V., Chubukov P., Ferguson W., Kumar A., Teng E.L., Duran M., Zhang L., Cost G., Engler A.J., Urnov F., Topol E.J., Torkamani A., Baldwin K.K. Unveiling the Role of the Most Impactful Cardiovascular Risk Locus through Haplotype Editing. Cell (2018) PMID: 30528432
• Kumar A., Thomas S.K., Wong K.C., Lo Sardo V., Cheah D.S., Hou Y., Placone J.K., Tenerelli K.P., Ferguson W., Torkamani A., Topol E.J., Baldwin K.K, Engler A.J. Mechanical activation of noncoding-RNA-mediated regulation of disease-associated phenotypes in human cardiomyocytes. Nature Biomedical Engineering (2018) PMID: 30911429
• Lo Sardo V., Ferguson W., Erikson G.A., Topol E.J., Baldwin K.K., Torkamani A. Influence of donor age on induced pluripotent stem cells. Nature Biotechnology (2017) PMID: 27941802
• Blanchard J.W., Eade K.T., Szücs A., Lo Sardo V., Tsunemoto R.K, Williams D., Sanna P.P., Baldwin K.K. Selective conversion of fibroblasts into peripheral sensory neurons. Nature Neuroscience (2015) PMID: 25420069
• Lo Sardo V.*, Zuccato C.*, Gaudenzi G., Vitali B., Ramos C., Tartari M., Myre M., Walker J., Pistocchi A., Conti L., Valenza M., Drung B., Schmidt B., Gusella J., Zeitlin S., Cotelli F. and Cattaneo E. An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin. Nature Neuroscience (2012) PMID: 22466506
• Lo Sardo V., Chubukov P., Ferguson W., Kumar A., Teng E.L., Duran M., Zhang L., Cost G., Engler A.J., Urnov F., Topol E.J., Torkamani A., Baldwin K.K. Unveiling the Role of the Most Impactful Cardiovascular Risk Locus through Haplotype Editing. Cell (2018) PMID: 30528432
• Kumar A., Thomas S.K., Wong K.C., Lo Sardo V., Cheah D.S., Hou Y., Placone J.K., Tenerelli K.P., Ferguson W., Torkamani A., Topol E.J., Baldwin K.K, Engler A.J. Mechanical activation of noncoding-RNA-mediated regulation of disease-associated phenotypes in human cardiomyocytes. Nature Biomedical Engineering (2018) PMID: 30911429
• Lo Sardo V., Ferguson W., Erikson G.A., Topol E.J., Baldwin K.K., Torkamani A. Influence of donor age on induced pluripotent stem cells. Nature Biotechnology (2017) PMID: 27941802
• Blanchard J.W., Eade K.T., Szücs A., Lo Sardo V., Tsunemoto R.K, Williams D., Sanna P.P., Baldwin K.K. Selective conversion of fibroblasts into peripheral sensory neurons. Nature Neuroscience (2015) PMID: 25420069
• Lo Sardo V.*, Zuccato C.*, Gaudenzi G., Vitali B., Ramos C., Tartari M., Myre M., Walker J., Pistocchi A., Conti L., Valenza M., Drung B., Schmidt B., Gusella J., Zeitlin S., Cotelli F. and Cattaneo E. An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin. Nature Neuroscience (2012) PMID: 22466506