ʻMenys raresʼ: an exhibition on rare diseases research
There are around 5,000 and 7,000 rare disease around the world. They lack scientific and medical knowledge, they have low prevalence among population but they cause severe impairments to patients. In most cases, there is not an effective treatment to prevent them or relieve their symptoms. The main objective of the exhibition “Menys rares” (Less rare) is to promote public awareness of rare diseases and disseminate the effort made by different research groups. The University of Barcelona (UB) participates in the exhibition organised by the Catalan Association for Science Communication (ACCC) and sponsored by the Centre for Biomedical Network Research on Rare Diseases (CIBERER) and the National Centre for Genome Analysis (CNAG).
There are around 5,000 and 7,000 rare disease around the world. They lack scientific and medical knowledge, they have low prevalence among population but they cause severe impairments to patients. In most cases, there is not an effective treatment to prevent them or relieve their symptoms. The main objective of the exhibition “Menys rares” (Less rare) is to promote public awareness of rare diseases and disseminate the effort made by different research groups. The University of Barcelona (UB) participates in the exhibition organised by the Catalan Association for Science Communication (ACCC) and sponsored by the Centre for Biomedical Network Research on Rare Diseases (CIBERER) and the National Centre for Genome Analysis (CNAG).
Most rare diseases are genetic in origin; thus, biomedical research is crucial for the development of new therapies and treatments. Professor Bru Cormand, head of the Research Group on Neurogenetics at the Department of Genetics, member of the Institute of Biomedicine of the UB (IBUB) and exhibition collaborator, affirms: “Autism, for example, has a complex genetic basis that includes mutations related to other neurological disorders”.
Virgínia Nunes, lecturer of the Department of Physiological Sciences II and researcher at the Bellvitge Biomedical Research Institute (IDIBELL), explains that “Wolfram syndrome is quite uncommon, but thanks to patient registration, research can go further”. And Ivo Gut, from de National Centre for Genome Analysis (CNAG), headquartered at the Barcelona Science Park, emphasizes that “massive sequencing has revolutionized the research on rare diseases”.
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