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26/01/2017

Hipofam reaches the 30,000€ with a new donation to a research project of VHIR

Hipofam201701_884

26/01/2017

The Association, formed by patients, relatives and support groups of Familial Hypomagnesemia, visited VHIR to deliver the donation to the group that researches the disease

The http://hipofam.org/ Association for Information and Research of the Familial Hypomagnesemia (Hipofam) has handed over a donation of euros 15,000 for the research project on the desease that is led by Dr. Anna Meseguer, head of the research group CIBBIM-nanomedicine Renal Physiopathology of Vall d'hebron Research Institute (VHIR) and Dr. Gema Ariceta, head of the Paediatric Nephrology service of the Vall d'Hebron University Hospital.The association, which works with VHIR since 2015, has fulfilled its goal of raising euros 30,000 in a year to fund the research for this minority genetic disease. With the collaboration of Hipofam, the group has hired Mònica Vall, who made her doctoral thesis in this line of research.During the meeting with Hipofam, the coordinators of the project explained that as they have advanced in the investigation, they have been redefining the research strategy. In this sense, they emphasize that "we have focused on figuring out which genes and molecular mechanisms modify and modulate the effects of mutation because the disease is highly variable, even between siblings affected by the same mutation".To raise funds, Hipofam counts with contributions from individuals in regularly organized activities such as selling books for Sant Jordi, a charity paddle tournament or participation in the Christmas Fair of several Catalan towns. In addition, the city of Castellbisbal contributed euros 6,500, 1500 of which came from a charity gospel concert.The familial hypomagnesemia syndrome with hypercalciuria and nephrocalcinosis is a rare kidney disease, recessive and autosomal, characterized by the loss of calcium and magnesium in the urine. Although patients share similar genetic alterations, they evolve differently: some have more renal affectation and others eyes affectation. However, all of them end up progressing towards renal failure requiring transplant, unlike other genetic diseases of the kidney.

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