I investigate the phenotypic and molecular overlaps of various rare neurodevelopmental syndromes associated with abnormal cohesin activity and chromatin dynamics. Our specific goals are: a) to advance basic and clinical research in disorders with disturbed chromatin dynamics;
b) to provide information and research results to families and professionals on these rare diseases to improve care and management of patients. In addition, I study the role of the cohesin pathway in genome stability maintenance and cancer development. Specific aims are: a) To investigate the effects of the down-regulation of SMC1A gene as therapeutic target against colon cancer development in in vivo;
b) To establish an interactome atlas of cohesin in human cancer cells; c) To study the role of the cohesin pathway in genome instability, beyond that of cohesion.
Research Activities
Computational analysis and pipeline development for genomics data (bulk, single-cell, spatial genomics data)
Genome-wide association studies (GWAS) for the identification of germline variants associated with diseases, other binary phenotypes and quantitative traits.
Transcriptomic analysis of cancer cells, stem cells, organoids, human and murine tissues in disease models
Study of molecular and cellular mechanisms in tumorigenesis with a focus on dissecting cellular heterogeneity and interactions within the tumor microenvironment
Investigating the roles of genes involved in age-related diseases to elucidate their molecular mechanisms underlying cellular senescence and tissue damage
