To celebrate the Rare Disease Day, which takes places on 28th February, the University of Barcelona and the Bellvitge Biomedical Research Institute (IDIBELL), affiliated centre with the HUBc, the health campus of the UB, organised a round table to analyse the current state of the research carried out on the field or rare diseases, which affect about 400,000 people in Catalonia. The Bosch I Gimpera Foundation (FBG) –based in the Barcelona Science Park– has shown in this event an initiative initiative to promote the research on rare and ophan diseases within the University of Barcelona and the research institutes affiliated with the University.

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The event, which happened today, 26th February, in the Aula Magna of the Historic Building, was chaired by the vice-rector for Research, Innovation and Transfer, Jordi Alberch, who is an expert on the neurodegenerative mechanisms of Huntington’s disease, a rare disease. During his speech, Alberch remarked the importance of patient representatives and the collaboration with researchers, due to the fact that most of these diseases are genetic. According to the vice-rector, research on rare diseases, such as Huntington’s disease, can benefit other patients who suffer more common neurodegenerative diseases, such as Alzheimer’s disease.

The personalities who participated in the round table are: Virginia Nunes, researcher at the UB and IDIBELL, who spoke about the research on Wolfram syndrome; Aurora Pujol, ICREA researcher at IDIBELL, who talked about adrenoleukodystrophy; Teresa Casals, researcher at IDIBELL, who spoke about cystic fibrosis; and Maria Berdasco, researcher at IDIBELL, who talked about Sotos syndrome. The activity was supported by the Catalan Association of Scientific Communication (ACCC).

The initiative of the FBG has been presented by Lurdes Jordi, the manager of the Valorisation and Licensing Area of the FBG. The main objective of this project is to make more visible the work in the field of rare and orphan diseases carried out by UB researchers. Currently, there are 24 research groups which study 120 rare diseases. The project aims at creating synergies among research groups and sharing knowledge and technological advances with other entities and associations in order to obtain resources to research on these diseases.

On one hand, a rare disease is any disease that affects a small percentage of population, to be exact less than five people in 10,000 inhabitants. Currently, there are about 7,000 rare diseases which affect 7 % of the population identified. On the other hand, orphan diseases are those which affects a relatively small number of individuals, especially in developing countries, and for which no drug therapy has been developed because the small market would make the research and the drug unprofitable. This group includes some of the diseases which present high mortality rates.

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