Welcome to the website of Human Genomics

The Human Genomics services is an initiative of the Medical Genetics Unit within the Department of Medical Biotechnologies of the University of Siena. The main activities of the Medical Genetics Unit have always been the study of the genetic basis of rare diseases and in particular:

• Identification of the genetic basis of rare diseases using Next-Generation Sequencing platforms

• Study of new pharmacological treatments on neurons of patients with Rett syndrome obtained from induced pluripotent stem cells (iPS) generated by fibroblasts using genetic reprogramming technique

• Use of CRISPR-Cas9 technology for treatment of Rett Syndrome, Alport Syndrome and tumor with TP53 mutations.

• Study of genetic susceptibility to lung cancer in non-smokers

• Application of liquid biopsy

The Medical Genetics Unit has been recognized through ISO9001:2008 certification, which is a guarantee and reliability of our work for the customer. The organization employs specialized professionals with extensive experience in the sector, able to guarantee efficiency in a short time and meet the needs of our customers.

The Human Genomics Section is able to offer its customers a whole complete service that is not limited only to the delivery of a result but to a comprehensive consulting service to ensure the best solution to every problem. Our consultancy activities are carried out in favour of third parties (public and private bodies) and the offered services are distinct in the following groups:

• Next-Generation Sequencing Services

• induced Pluripotent Stem Cells (iPSC) services

• Gene editing services for CRISPR-Cas9 technology

• cell free DNA analysis services

• Preimplantation Genetic Services (PGT)