The Medical Genetics Laboratory research activities focus on two different lines of investigation.
The first concerns the genetics of neuropsychiatric disorders associated with intellectual disabilities (ID). Multiple genetic anomalies are associated with ID phenotypes, and new data are reported at a high rate. However, the underlying genetic mechanisms are seldom clear; in addition, the prognostic of the disease evolution based on genetic findings is difficult to predict. Currently, we focus on the identification of genetic aberrations associated with ID at genomic and cytogenetic level, with further interest in extending our investigations at transcriptomic and model organism level.
The second line is represented by the characterization of genetic lesions underlying the initiation and progression of hematologic neoplasms. The genetic abnormalities associated with leukemias bear a well-known clinical significance and are of outmost interest in the diagnosis, risk assessment, and management of the disease; therefore, their characterization and understanding brings multiple benefits for the medical science, and ultimately for the patients. We focus on the detection and characterization of these abnormalities at cytogenetic (classical and molecular) and genomic level (copy-number genomics), aiming to identify new aberrations and their contribution to the onco-phenotype, disease progression, and resistance to therapy. ……(read more)