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The research Unit, including the Section of Nephrology of the University of Campania L. Vanvitelli (Naples) and its partner Biogem Scarl, a research centre in Ariano Irpino, is working on several lines of research:  

The construction of a database of Italian BBS patients 

Patients with the clinical diagnosis of BBS, those suspected of having BBS are referred to the clinic dedicated to rare kidney disorders. Basic medical examinations, genetic analysis and follow-up exams are guaranteed for adult patients with a multi-disciplinary management, according to the patients’ needs which include : Ophtalmologists, endocrinologists, neurologists & geneticists.

Centre de données
Consultation médicale

Clinical studies

Observational analysis of metabolic parameters and renal function over time; correlation of clinical data with genotype.  Analysis of BMI, the estimated glomerular filtration rate slope per year.

Translational studies

Proteomics and metabolomics analysis of patients’ urine, to find biomarkers of disease and also to decipher the pathophysiology of the disease.

Scientifique avec microscope

Pre-clinical studies

The development of cellular and mice models of BBS to elucidate aberrant downstream signalling pathways of BBS genetic mutations.

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