Prof. Francesc García Gonzalo, Director of the Rare Diseases Programme and Principal Investigator of the Cilia and Ciliopathies research group at the Institute for Biomedical Research Sols-Morreale (IIBM) CSIC-UAM, was one of the invited speakers at the 3rd National Conference on Joubert Syndrome, held on 3 October 2026 at the Plenary Hall of the Cangas do Morrazo Town Hall, in Galicia.
The conference was organised by Asociación FABERT, an association of families affected by Joubert syndrome and related disorders. During the event, the First Clinical Guide on Joubert Syndrome was officially presented. Numerous experts in the clinical management of patients with the condition, as well as scientists, contributed to its preparation, including Dr. García Gonzalo. His research focuses on the molecular basis of this rare disease, which belongs to the group of disorders known as ciliopathies. Joubert syndrome affects approximately 1 in every 100,000 newborns, and its manifestations include, among others, brain malformations, kidney dysfunction, eye disorders and polydactyly.
At the closing ceremony, Dr. García Gonzalo received a Plaque of Honour from Asociación FABERT in recognition of his nearly two decades of research into the ciliary processes affected by this disease. The conference is available to watch at this link.