Medical Genetics and Rare Orthopaedic Diseases

The Medical Genetics Structure équipe. In the center, its Head Dr. Luca Sangiorgi

The Simple Department Structure (SSD) of Medical Genetics and Rare Orthopaedic Diseases is involved in diagnosis and care of patients affected by rare skeletal dysplasias and other orphan diseases. It is provided with a medical genetics outpatient clinic, welcoming patients with suspected familiar syndromes and offering counseling, and with a molecular genetics laboratory for the molecular diagnosis of such pathologies. It is also involved in several scientific research activities, in the field of rare syndromes involving the muscular-skeletal system.

In collaboration with the Center for Rare Diseases of the Istituto Superiore di Sanità we coordinate the drafting of guidelines for skeletal dysplasias, reference for the treatment of patients on the national territory.

Information Material

The Unit of Medical Genetics participates in various projects involved in the study of etiopathogenetic mechanisms at the basis of skeletal dysplasias, and is also involved in training and  educational activities on these diseases, for instance by participating in the Rare Skeletal Diseases Week that groups healthcare staff and patients nationwide.

The Regional Hub & Spoke Network for Rare Skeletal Diseases

The Unit of Medical Genetics is coordinator of the Regional Hub & Spoke network for Rare Skeletal Diseases in the Emilia-Romagna region. The network, the first in Italy, operates throughout the region following the American model called Hub & Spoke, that is by connecting online with the network highly specialized centers (Hub) to the hospitals on the territory (Spokes) thus guaranteeing patients appropriate and aimed diagnostic and therapeutic treatments.

Research Activity

Laboratory activity at the Medical Genetics Structure

The Unit of Medical Genetics  participates in projects and national and international research networks, aimed at the study and analyses of hereditary skeletal diseases.
By coordinating the CLIBI (Clinical Bioinformatics) Laboratory, it also participates in the Science of Life Regional Platform.

Content updated 28/04/2016 - 10:17
Content edited by: Dr.ssa Marina Mordenti (marina.mordenti@ior.it)
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