This website provides information on patients with mutations in the BBS1 gene, including clinical data, molecular data, management and research options.

Biallelic mutations in the BBS1 gene are among the leading cause of Bardet-Biedl syndrome (BBS), a rare inherited multisystem disorder mainly characterized by retinal dystrophy, obesity, cognitive impairment, polydactyly, hypogonadotropic hypogonadism and kidney disease.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the BBS1 gene.

Miriam Zacchia, MD, PhD, Unit of Nephrology, Department of Translational Medical Sciences, University of Campania, L. Vanvitelli, Naples, Italy, miriam.zacchia@unicampania.it

Floriana Secondulfo, MD, Unit of Nephrology, Department of Translational Medical Sciences, University of Campania, L. Vanvitelli, Naples, Italy, floriana.secondulfo@studenti.unicampania.it