Decades of innovation and collaboration are now coming together to advance research on rare diseases, but we must keep momentum going to ensure rare diseases are recognized as a public health and research priority.
“Today we have greater knowledge, there are more products in the pipeline, a growing number of patient advocacy groups and greater public awareness,” confirms Dr Steve Groft, Senior Adviser to the Director of the National Center for Advancing Translational Science at the National Institute for Health in the US.
International collaboration has undoubtedly played a vital role in bringing expertise together to advance research in rare diseases. Everyone from governments, regulators to bio-pharma companies has been involved. One area in particular that has led to major breakthroughs has been the growth of patient advocacy groups.
To date, one of the major stumbling blocks to advancing research had been the lack of critical mass of research investigators to carry out studies. Social media changed all that, as individuals across the globe with similar diseases have been able to connect.
Perhaps one of the greatest challenges continues to be funding, although, as Dr Groft explains, progress is being made. “Governments have been more willing to invest and the Biopharmaceutical companies can see now a viable business model. Crowd sourcing is also growing and projects like the online RE(ACT) Community should be encouraged, particularly to fund smaller trials”.
Amongst other developments, 2015 saw new drugs approved to treat multiple myeloma, melanoma and pancreatic cancer and pulmonary arterial hypertension, alongside additional breakthroughs for cystic fibrosis. There’s certainly momentum on rare disease research, however, much more international attention is needed to push forward research and increase prevention, diagnosis and treatments for rare disease patients.
Health care and treatment for rare diseases is a human rights issue and a global strategy to ensure rare diseases are recognized as a public health and research priority is certainly needed. The scientific community and patient organizations have a central role to play in advising policy-makers on the most urgent points that need public action. In this sense, the BLACKSWAN Foundation, in collaboration with Rare Diseases International (RDI) and Eurordis, is planning the launch of a petition in support to research (http://www.blackswanfoundation.ch/en/petition/) during the International Congress on Research of Rare and Orphan Diseases (Barcelona, 9 -12 March).
