Translational Cytogenetics

Head of Research Unit
Antonio Novelli

The Research Unit is committed to broadening the mutational and phenotypic spectrum of patients, through the identification of new disease-genes and new genotype-phenotype associations, also in relation to undiagnosed diseases.

The Unit deals with the development of an (omics) approach that takes into consideration the genome in its complexity and three-dimensionality, with the aim of reaching a diagnosis in patients affected by a rare genetic syndrome not yet identified, allowing to expand the knowledge currently available regarding relegatory elements of phenotypic expressivity and to identify new pathogenetic elements.

The Unit is responsible for determining the response to drugs on the basis of the pharmacogenetic profile and for identifying, through the use of the Optical Genome Mapping technique, new pathogenetic mechanisms underlying constitutional and acquired pathologies (pediatric solid tumors).

The Optical Genome Mapping technique uses lasers and special automated acquisition systems to visualize no longer the chromosomes, but the long strands of DNA that compose them, guaranteeing a resolution thousands of times higher, up to visualizing the structure of the single genes.

The Translational Cytogenetics Research Unit is made up of Biologists specialized in Medical Genetics, trainee Biologists (in training), doctors specialized in medical genetics, Bioinformatics, Biomedical laboratory technicians.