The importance of international collaboration for rare diseases research: a European perspective.

Over the last two decades, important contributions were made at national, European and international levels to foster collaboration into rare diseases research. The European Union (EU) has put much effort into funding rare diseases research, encouraging national funding organizations to collaborate together in the E-Rare program, setting up European Reference Networks for rare diseases and complex conditions, and initiating the International Rare Diseases Research Consortium (IRDiRC) together with the National Institutes of Health in the USA. Co-ordination of the activities of funding agencies, academic researchers, companies, regulatory bodies, and patient advocacy organizations and partnerships with, for example, the European Research Infrastructures maximizes the collective impact of global investments in rare diseases research. This contributes to accelerating progress, for example, in faster diagnosis through enhanced discovery of causative genes, better understanding of natural history of rare diseases through creation of common registries and databases and boosting of innovative therapeutic approaches. Several examples of funded pre-clinical and clinical gene therapy projects show that integration of multinational and multidisciplinary expertize generates new knowledge and can result in multicentre gene therapy trials. International collaboration in rare diseases research is key to improve the life of people living with a rare disease.

Histopathological heterogeneity and cytopathological similarity of findings in different muscles of two brothers affected by rigid spine syndrome.

The pathological changes in muscles biopsied from 2 brothers with rigid spine syndrome are reported. The findings ranged from marked fascicular atrophy and fibrosis to hypotrophy of small groups of fibres and vacuolation in most fibres. The presence of vacuoles and deposits of accumulated material seemed to be common to all the biopsies. These findings, compared with those reported in the literature, confirmed the histopathological heterogeneity of this syndrome but proposed also the hypothesis that similar elementary lesions of muscle fibres can account for the initiation of the pathological process, developing asynchronously in different muscles because of their different activity.