Luca Sangiorgi · 
| Address: |
Genetic Unit – Rizzoli Orthopaedic Institute Via Pupilli 1/10 40136 Bologna |
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Tel: Fax: |
+39 051 6366519 +39 051 6366681 |
Skills and competences
Genetic Unit of Rizzoli Orthopaedic Institute (IOR) is a scientific partner of BioPharmaNet Project. The Unit works on hereditary rare displasias, both neoplastic and not, involving muscolo-skeletal, like i.e. multiple ostechondromas, osteogenesis imperfecta, etc.
The Unit offers two interconnected services: a genetic couselling day clinic and a genetic analysis lab:
- GENETIC LAB performs molecular screening by PCR, DHPLC, MLPA, RealTimePCR and direct sequencing analysis on hematic and tissue samples. Moreover aim of the Unit is understanding molecular mechanisms related to the before mentioned pathologies
- DAY CLINIC acts twice a week for genetic counseling on patients with familiar syndromes.
All the data produced by Genetic Lab and Day Clinic are collected in specific softwares due to study biological pathway and more due to correlate genotype and phenotype of patient. Aim of correlation is the personalized medicine that works to design appropriate treatments for a patient according to his/her genotype.
The role in the project is e-health, so an healthcare practice which is supported by electronic processes and communication.
Rizzoli Genetic Unit was the coordinator unit of GeBBALab project (www.gebbalab.it) and it is also involved in various national and international project related to life science and bioinformatics. RNBio (www.rnbio.it), European Skeletal Displasia Network (www.esdn.org), EuroBoNet (www.eurobonet.eu), Italian Registry of Exostosis Disease (www.ministerosalute.it).
