On May 11, the Seminar on Hereditary Hypomagnesaemia was promoted and organized by Hipofam in Hospital Infantil i de la Dona from Vall d'Hebron, with the collaboration of the Pediatric Nephrology Department and the Vall d'Hebron Research Institute, for patients with family hypomagnesemia and with Gitelman's Syndrome. During the day, the members of Hipofam represented by their president Antonio Cabrera, Dr. Gema Ariceta, head of Pediatric Nephrology and Dr. Anna Meseguer, head of the CIBBIM-Nanomedicine Renal Physiopathology Research Group of the VHIR participated in the Seminar. In addition, Hipofam handed out the euros 15,000 collected in various events, such as the Christmas campaign, the solidarity pen in the SEAT company, the "Caça del Tió" in Castellví de Rosanes, a "Quinto Solidri" in Castellar del Vallès and, recently, a monologue of humor in Martorell. This amount will be fully invested in the research project on family hypomagnesemia that is being developed at the VHIR, and will be added to donations previously delivered.This seminar, which was informative and educational by patients, was aimed at updating the knowledge of the disease and the projects and activities developed by Hipofam. Likewise, the European project for the care of people with rare diseases was presented, specifically the ERKNet network devoted to kidney disease, led by Dr. Gema Ariceta, and in which the representatives of Hipofam also participate in the representation of the patients. The researcher Mònica Vall and the Dra. Anna Meseguer, from the CIBBIM-Nanomedicine. Kidney Physiopathology group of the VHIR, explained the evolution of the family hypomagnesaemia project that is being developed in the group. Finally, Ms. Laura Nuñez, nurse of Pediatric Nephrology, Ms. Mireia Forner, psychologist at the same service and Dr. Gema Ariceta, head of the service, talked about the integral care model of the Vall d'Hebron Hospital. At the end of the talks, questions were filed so that patients could solve their concerns.About the Family Hypomagnesaemia SyndromeThe Family Hypomagnesaemia Syndrome with Hypercalciuria and Nefrocalcinosis is a rare disease of autosomal recessive inheritance characterized by the loss of calcium and magnesium in the urine.The syndrome occurs by mutations to the genes encoding by Claudine-16 or Claudine-19, proteins located in the kidney and involved in the regulation of ionic permeability in the cells of the thick ascending branch of Henle's handle. This disease has several manifestations causing the loss of kidney function and, in many cases, transplantation in pediatric age, as well as ocular effects that lead to almost blindness of patients, as well as many other clinical manifestations that vary from patient in patient. And although, in many cases, it is based on the same genetic mutation, the expression of the illness and its symptoms are very diverse.To this day, as explained by the researcher Mònica Vall and Dr. Meseguer, the research group is focused on a specific mutation in the Claudina-19 gene (p.G20D), since it is the most frequent mutation in southern Europe. In order to understand why variability among patients, CIBBIM-Nanomedicine. Kidney Physiopathology group is looking for blood samples and urine exosomes (information reservoirs of what happens to the kidney) which biological processes are altered in the disease. These studies are complemented by a cellular model generated in the laboratory that contains the normal Claudine-19 and mutates it to identify which other molecules are affected by the presence of mutation in the Claudin-19 gene.About Hipofam "http://hipofam.org/ Hipofam Patients Association has been actively collaborating with the VHIR since 2015 in the financing of the search for this minority genetic disease through an agreement that has allowed the recruitment of the researcher Mònica Vall, who performs her doctoral thesis in this line of research. The line of research for Hypomagnesemia is financed by the Health Institute Carlos III, through competitive calls.