ABSTRACT

This conclusion presents some closing thoughts on the concepts covered in the preceding chapters of this book. The world of rare diseases has changed significantly in the past two decades. The book shows that much remains to be done. Identifying patients, moving ahead with the science, developing new drugs, building international registries and reference networks—all these activities take time and money. As many of the contributors have emphasised, a key problem is the lack of awareness and interest in rare diseases. With that understanding of rare diseases, it is hardly surprising that they are low on everyone's agenda. The drug development will take place through Findacure's non-profit social enterprise, Findacure Development, which aims to develop medicines for fundamental diseases and to sell them to the health service at an affordable price in order to take the strain off health budgets and make more treatments available for more people.