Hipofam, the association for the information and research of familiar hypomagnesemia, has made a donation of euros 15,000 to the CIBBIM-Nanomedicine-Renal Pathophysiology research group of the Vall d'Hebron Research Institute (VHIR) through the campaign "Sponsor a researcher." The fund raised by Hipofam is intended to finance the hiring of researcher Mònica Vall, who is carrying out her doctoral thesis on familiar hypomagnesemia with hypercalciuria and nephrocalcinosis. Since 2015, thanks to the nine donations they have made and their agreements with the Association for the Information and Research of Genetic Kidney Diseases (AIRG-E), they have donated more than euros 140,000 to the VHIR.Due to the pandemic, its action plan has had to be reoriented in order to continue raising funds. Antonio Cabrera, president of Hipofam, explains that during these months they have carried out crowfunding among other non-contact activities. "In the end the result has been positive and we have been able to continue with our activity, but we hope that the situation returns to normal as soon as possible because it is very difficult to obtain donations with these conditions -laments Cabrera- Now all projects focus on COVID-19 and it seems that all other diseases no longer exist and this influences our collection", he adds.The ceremony was attended by Dr. Gema Ariceta, head of the Pediatric Nephrology Service at Vall d'Hebron University Hospital and principal investigator of the CIBBIM-Nanomedicine-Renal Pathophysiology research group of Vall d'Hebron Research Institute, Mònica Vall, researcher of the same group and Antonio Cabrera, president of Hipofam, accompanied by his son.This year the aim of the association was to maintain its annual donation but on the other hand and thanks to the donation they received from the Inocente Inocente foundation, they have been able to help families financially, two of them patients from Vall of Hebron.What is Family HypomagnesemiaFamilial Hypomagnesemia Syndrome with Hypercalciuria and Nephrocalcinosis is a rare disease of autosomal recessive inheritance characterized by loss of calcium and magnesium in the urine and impaired renal function. The syndrome is caused by mutations in genes encoding 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 the Henle's loop.The Renal Pathophysiology group is currently looking at blood samples and urine exosomes for biological processes that are altered in the disease, as well as those that are present in patients with a more severe course of the disease and absent in those who progress more slowly. The study also includes comprehensive analysis of the sequences encoding all genes in the genome in all patients in order to identify possible gene variants that may be responsible for the different expression of the disease.