The event, organized by the Vall d’Hebron Research Institute (VHIR) in collaboration with the Association for Information and Research on Familial Hypomagnesemia (HIPOFAM), brought together patients and professionals from various parts of Spain to share experiences and update on research advancements for these ultra-rare diseases. The conference commemorated over a decade of collaboration between both entities, a key relationship for maintaining contact amidst the geographical dispersion of affected individuals.
Antonio Cabrera, president of HIPOFAM, highlighted the conference's importance for exchanging knowledge and reinforcing the bond between patients and researchers. The scientific program included presentations on research advancements in familial hypomagnesemia with hypercalciuria and nephrocalcinosis, gene therapy in kidney disease, and updates on Gitelman syndrome. Dr. Gema Ariceta, Head of Pediatric Nephrology at the Vall d'Hebron University Hospital, and Dr. Cristina Martínez, principal investigator at VHIR, participated in the opening and presentations.
Collaboration with the CIMA of Navarra was emphasized, particularly the perspective of Sergio Milagros, who combines his research activity with his experience as a patient. HIPOFAM projects were also presented, and a tour of the VHIR facilities was conducted.
A key moment was a co-creation workshop facilitated by VHIR's Impact and Responsible Research and Innovation (RRI) team. This activity gathered patients and professionals to identify challenges and needs related to familial hypomagnesemia and Gitelman syndrome, promoting more egalitarian relationships in research. Sara Mas, Head of Impact, Research, and Innovation at VHIR, explained that the goal is to reduce barriers and incorporate patient experience into research processes.
