Medical genetics is the application of genetics to medical care, including research into the genetic causes and inheritance of genetic and/or complex diseases, as well as their diagnosis and management.

In the laboratory of Prof. Francesca Mari, in-depth analysis of the genetic profile of patients affected by chronic lymphocytic leukemia (CLL) is performed, at different stages of the disease. The project aims to identify complete and detailed genetic profiles of CLL and study new molecular markers that guide its development and refractoriness. The aim is to provide new treatment opportunities for the patient by improving life expectancy and quality of life, and at the same time reducing healthcare costs. This is achieved using cutting-edge technological tools for exome sequencing (WES), to identify new constitutive and somatic mutations that contribute to the development and progression of tumors. All analyses are performed using dedicated software and bioinformatics systems.

Use of next-generation sequencing for the study of rare genetic diseases, especially in the field of neurodevelopmental diseases.

Furthermore, given the importance of the application of next-generation sequencing analysis in the postnatal setting for the diagnosis of genetic anomalies, another goal we have set ourselves is to apply these technologies also in the prenatal setting for the study of nonspecific fetal anomalies, such as isolated increased translucency and early-onset intrauterine growth restriction, in order to obtain elements capable of predicting fetal prognosis and guiding the couple in the decision-making process. All this will allow us to acquire important ideas for the definition of guidelines in fetal diagnostics.