Hipofam has delivered, for the second time this year and with the https://www.castellbisbal.cat/actualitat/visita-a-la-vall-dhebron-per-coneixer-lestat-del-projecte-dinvestigacio-de-la-hipomagnesemia-familiar.html participation of the Castellbisbal City Council, a donation of euros 15,000 for the research project in the Family Hypomagnesemia of the http://www.vhir.org/portal1/grup-equip.asp?s=recerca&contentid=186829 Renal Physiopathology group CIBBIM - Nanomedicine of the Vall d'Hebron Research Institute (VHIR) ), led by Dr. Anna Meseguer and Dr. Gema Ariceta, head of the Pediatric Nephrology service of the Vall d'Hebron University Hospital.Thehttp://hipofam.org/ Hipofam Patient Association, since 2015, has been collaborating actively with the VHIR in the financing of research into this minority genetic disease, through an agreement that has allowed the hiring of the researcher Mònica Vall, who is completing her doctoral thesis in this line of research.The donation has been carried out in the presence of Antonio Cabrera and other members of Hipofam, and of the councilor Joaquim Sardà of the City Council of Castellbisbal, who have been introduced to the latest advances in research into the disease.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 derives from a genetic mutation in the gene that codes for Claudina 16 or Claudina 19, proteins located in the kidney and involved in its permeability by functioning as a cellular barrier, regulating its blood flow.Before the mutation, Claudin malfunctions and alters the inflow and outflow of cells, causing high concentrations of calcium in urine, which calcifies the kidney. This causes transplantation in pediatric age and ocular effects that can lead to blindness of patients, in addition to many other phenotypes that vary from patient to patient. And although it is based on the same genetic mutation, the expression of the disease and its symptoms are very diverse.Today, as explained by Dr. Anna Meseguer and Mónica Vall, the research group is focused on the mutation in the Claudin 19 gene, presenting 72 cases described in Spain and being the most frequent mutation among those affected of Mediterranean origin. To understand why phenotypes vary among patients, the group is looking in serum and urine of patients (reserves of information on kidney function) cell-level expressions of claudins and other molecules related to the transport of magnesium and calcium. This sample is being compared with a cellular model reproduced from the stem cells, to identify which molecules vary their expression according to the different phenotypes from the Claudin 19 mutation.HipofamThe 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, through grants and contributions from individuals in periodic activities such as sports days or material designs for solidarity trade.