Department of Medical Biotechnologies at the University of Siena

University of Siena (UNISI) is among the oldest Italian universities, funded in 1240. It is a multidisciplinary university in the fields of medicine, science, and technology, low, economics, letters and philosophy, engineering, and political science.

The Department of Medical Biotechnologies (DBM) operates in the fields of medical biotechnologies focusing on the development of biotechnological methods for medical diagnostics. Within the Human Genomics platform, we are offering the following services: Next-Generation Sequencing Services; Induced Pluripotent Stem Cells (iPSC) Services; Gene Editing Services for CRISPR-Cas9 Technology; Cell free DNA analysis services; and Preimplantation Genetic Services (PGT).

The Medical Genetics Unit carries out activities in the field of genetic counselling and molecular diagnosis of hereditary diseases, aiming at the diagnosis and prevention of genetic diseases and the identification of the most suitable clinical care pathways for individuals suffering from genetic diseases. We provide genetic counselling for: people affected by rare genetic diseases and/or with family members affected by genetic diseases; people with rare cancers and/or with a family history of cancers; pregnant women; couples with multiple abortions, infertility problems or undergoing an assisted pregnancy; families with a child affected by a neurodevelopment disorder.

The laboratory is also a referral centre in Italy for Alport and Rett syndromes and it coordinates the international Rett database network.

Role within Screen4Care

Our genomic technologies and artificial intelligence (with analytical advanced methods such as machine learning) will be at the service of the European research project "Screen4Care", to diagnose patients with rare diseases through genetic newborns screening and to provide effective intervention. In our specific case, we will be screening on a population of newborns from Tuscany – Italy.