Coming together to make research on rare diseases possible

IRB Barcelona Director Joan J. Guinovart was one of the invited speakers in a workshop dedicated to rare diseases on 29 February
IRB Barcelona Director Joan J. Guinovart was one of the invited speakers in a workshop dedicated to rare diseases on 29 February

Once every four years we are reminded that the Earth does not revolve around the Sun in exactly 365 days. We add an extra day to February to compensate for the six-hour difference between the calendar year and the solar year. Being born on 29 February is thus a relatively rare event. For this reason, since 2008, this leap day is dedicated to commemorating the approximately 7000 rare diseases that affect between 27 and 36 million Europeans. The European Union defines a disease as “rare” if it affects fewer than 5 in 10,000 people. Because these diseases are complex, many have no treatment, thus leaving those who suffer from them and their families and carers, a heavy burden.

This year, the Hospital Clinic in Barcelona organised a workshop called Tots junts fem pinya (Together we are stronger) that assembled representatives from the main patients’ associations and platforms in Catalonia and Spain, researchers, clinicians, representatives from research institutions, hospitals and universities, and patients and their families to focus on the importance of multidisciplinary research on rare diseases. The consensus was clear: great advances can be made in the understanding and treatment of rare diseases, but funding is needed. As representative of the Rare Diseases Committee at the Catalan Ministry of Health Miquel Viladrell pointed out: “We have the talent to find cures. We just need the resources.”

Family members of patients with rare diseases, often young children, shared poignant stories of their daily challenges, and of their hopes that cures can be found. They highlighted the crucial role that families can and must play in raising awareness and support for research and healthcare.

IRB Barcelona Director Joan J. Guinovart presented his group’s research on Lafora Disease in a dedicated round table with other researchers from different institutions in Barcelona. He referred to a platform in Australia called Chelsea’s Hope, as a successful model of what can happen when people get together to create awareness about a disease and help raise funds for research, treatment and cures for those affected by Lafora. “Only by joining forces can we make a research project possible that will find a cure for a rare disease,” he said.

IRB Barcelona supports research on rare diseases and is currently conducting about 20 studies. The rare diseases researchers in the Institute are studying are Seckel Syndrome, Sanfilippo syndrome, Ciliopathies (RGMC), Ataxia Telangiectasia, Idiopathic inflammatory myopathies, Charcot Marie Tooth disease, Mitochondrial diseases, Kennedy disease, Aminoaciduria (Cistinuria and Lysinuric protein intolerance, LPI), Lafora disease, Friedreich’s Ataxia, Glycogenosis (Pompe disease) and specific cancer types: oral squamous cell carcinoma, glioblastoma, and diffuse paediatric glioblastoma (DIPG).