The Department of Rare Skeletal Disorders 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. Since 2017, the department is furthermore the coordinating centre of ERN BOND, the European Reference Network on rare bone disorders.

The Regional Hub & Spoke Network for Rare Skeletal Diseases

The Department of Rare Skeletal Disorders 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

The Department of Rare Skeletal Disorders is engaged in numerous research projects and national and international research networks with the objective of studying rare skeletal and/or oncological conditions. 

In this unit, patients have the opportunity of depositing a biological sample in the BIOGEN Biobank (TNGB) and participating in one of the active Disease Registries. This allows samples and data to be made available for research projects and scientific studies. Participation in the Biobank and/or Disease Registries is contingent upon the collection of dedicated informed consent, which is typically obtained at the Outpatient Clinic of the Department of Rare Skeletal Diseases or in the wards of the Institute.

For further information on the BIOGEN biobank, please contact biogen@ior.it.

For information on Disease Registries, please write to registri.malattierare@ior.it.