The 28th of February is Rare Disease Day with the theme “Day by Day, Hand in Hand”, to raise awareness about this diseases that, only in Spain, affect more than 3 million people. The Vall d’Hebron Institute of Research (VHIR) wants to join in the campaign to give patients and families a feeling of hope and the possibility of a positive change.

Also, in Spain, the Spanish Federation of Rare Diseases (FEDER) has launched a campaign to commemorate the day and make these diseases visible. In consists on taking a photo with a green mark on the cheek and sharing it, as has done VHIR’s director, Dr. Joan Comella, and some of the researchers that work in rare diseases. They are Dr. Anna Meseguer, that together with Dr. Ariceta lead research work on Dent’s syndrome and hypomagnesaemia; Dr. Ramon Martí, in the area of mitochondrial diseases; and Dr. Cristina Solé, that works on lupus.

The fight against rare diseases is one of VHIR’s pillars, where nearly 200 of these diseases are investigated, from 26 different clinical areas. Doctors, predoc and postdoc researchers, nurses and technical staff make a total of more than 350 professionals that dedicate part of their day by day to move forward in the knowledge of these diseases and finding treatments to increase quality of life of patients and cure them.

For a better management of these diseases, the Vall d’Hebron University Hospital is starting up a new and integrated model of patient care, in which research has a key role. With the new system, most of these patients will be able to be visited in a module of the Rare Diseases Unit, by multidisciplinary teams trained in research and clinical treatment. In addition, the new model allows the possibility of a follow up and treatment of patients, from childhood to adulthood. The goal is that specialists can “reach an understanding through a case management system” to schedule visits with the frequency that is required in each case. This unit would be integrated in the Genetics clinical and molecular area, directed by Dr. Eduardo Tizzano, head of the Genetics Medicine group at VHIR.

Among the rare diseases investigated at Vall d’Hebron, there are systemic diseases, such as lupus erythematosus, scleroderma and Sjörgen’s syndrome; pediatric neurology diseases, like mitochondrial diseases, lysosomal storage disorder or neuromuscular disorders; and other such as cystic fibrosis, Marfan syndrome, immunodeficiency diseases, spina bifida, ALS, or Dent’s disease.

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