The commitment of the Hipofam patient association has become clear once again with the donation of euros 15,000 that has been delivered to the group http://en.vhir.org/portal1/grup-equip.asp?s=recerca&contentid=186829 CIBBIM-Nanomedicine, Kidney Physiopathology Vall d'Hebron Research Institute (VHIR) led by Dr. Anna Meseguer, for the research project in the family hypomagnesemia directed by Dr. Gema Ariceta, principal investigator of this group and head of the Pediatric Nephrology service Vall d'Hebron. The http://hipofam.org/" Hipofam Patient Association actively collaborates with the VHIR in the funding of research into this minority genetic disease since 2015 through an agreement that has allowed the hiring of the researcher Mónica Vall, who is doing her doctoral thesis in this line of research. investigation.The syndrome of familial hypomagnesemiaFamilial Hypomagnesemia Syndrome with Hypercalciuria and Nephrocalcinosis is a rare disease of autosomal recessive inheritance characterized by the loss of calcium and magnesium in the urine.The syndrome is caused by gene mutations CLDN16 or CLDN19 genes, which code for Claudin-16 or Claudin-19, proteins located in the kidney and involved in the permeability of ionic flux in certain segments of the nephron. Mutations in the Claudin-16 and -19 genes cause the alteration of the inflow and outflow of magnesium and calcium ions, which, among other alterations, lead to calcification of the kidney. The inexorable progression towards terminal chronic kidney disease necessitates kidney transplantation in the pediatric age. In addition, some patients show an important ocular involvement that can lead to blindness in some cases. It is important to note that, despite presenting the same genetic alteration, the clinical manifestations of the disease can vary significantly between patients.To date, as explained by Dr. Meseguer and Ph student Mónica Vall, the research group is focused on the study of the mechanisms of disease progression. Currently, there are 42 cases described in Spain with a high frequency of the p.G20D mutation, the CLDN19 gene, known as the Hispanic mutation. To understand why phenotypes, vary among patients, the group is looking for variants in other genes that may contribute to the different manifestations of the disease. Likewise, the content of urinary exosomes, vesicles present in the urine that contain information on the biological processes that occur in the kidney, is being studied in order to identify new mechanisms of disease progression. At the same time, the laboratory is also generating cellular models of the disease that allow deepening the characterization of the molecular processes identified in patients.The Hipofam AssociationThe Association for Information and Research of Family Hypomagnesemia is a non-profit association that aims to raise funds and organize campaigns for information and research of this disease. From 2015 to the present, Hipofam has given more than euros 75,000 in the laboratory of Renal Physiopathology. To raise these funds, Hipofam organizes all kinds of activities from sports or children's events in raffles or shows. In addition, it receives contributions from the City Council of Castellbisbal that this year has given the figure of euros 8,000 to the Hipofam project. The Councilman of Cooperation of this municipality, Mr. Joaquim Sardà, is very interested in the evolution of the research and has visited the VHIR together with Antonio and Susana of the Association to know firsthand the advances in the investigation of the disease.