The Can Ruti Rare Diseases Workshop shows the strength of multidisciplinary work on the campus

- Research

This years' edition of the Workshop on Rare Diseases took place at the IGTP this Thursday with the title 'A Multidisciplinary Approach to Rare Diseases' timed for the International Day for Rare Diseases, celebrated this year on 29 February. The key to improving the management of this type of disease is dialogue between different specialty areas and a much more global approach. This must be coupled with the inclusion of research staff when deciding on the lines of research to be advanced.

Specialists from the Germans Trias Hospital and researchers from the Germans Trias i Pujol Institute, the Catalan Institute of Oncology Badalona and the Guttmann Institute along with representatives from patients associations took part in the workshop. The first session dealt with the different consolidated groups. Of these, special attention was given to the Facomatosis Functional Unit, the only accredited National Reference Centre (CSUR) on the campus. The Neuromuscular Diseases Unit of Clinical Experts, shared between the Hospital and the Guttmann Institute, has also received international recognition.

The need to keep up to date is undeniable; and especially so in the field of rare diseases. For this reason the second part of the workshop was dedicated to the emerging and developing groups. Maite Turpin (HGT) and Inés Rodríguez (ICO), explained the development of the Multidisciplinary Group on Hereditary Haematological Diseases, while Marta de Diego spoke of sexual differentiation disorders, which are handled by a new multidisciplinary Unit, also in development.

After the break different transversal aspects and processes, common to all rare diseases were discussed, such as access to specific medications to treat them and the difficulties they bring. The experts present discussed congenital metabolic deficiencies and psychiatric symptoms in more detail.

After these sessions focussing more on clinical care, the last part of the workshop was dedicated to the research lines into rare diseases currently underway on the campus. This year the emphasis was on cellular models for the study of neurofibromatosis, advances in gene therapy in the treatment of Friedriech's Ataxia and projects to advance diagnostics for acromegaly. The Neuromuscular and Neuropediatric Research Group showed the latest developments in their field and explained an unusual collaboration they carried out last autumn with the Èpica Foundation of the Fura dels Baus, a well-known theatre company.