Rare disease research has reached a tipping point, with the confluence of scientific and technologic developments that if appropriately harnessed, could lead to key breakthroughs and treatments for this set of devastating disorders. Industry-wide trends have revealed that the traditional drug discovery research and development (R&D) model is no longer viable, and drug companies are evolving their approach. Rather than only pursue blockbuster therapeutics for heterogeneous, common diseases, drug companies have increasingly begun to shift their focus to rare diseases. In academia, advances in genetics analyses and disease mechanisms have allowed scientific understanding to mature, but the lack of funding and translational capability severely limits the rare disease research that leads to clinical trials. Simultaneously, there is a movement towards increased research collaboration, more data sharing, and heightened engagement and active involvement by patients, advocates, and foundations. The growth in networks and social networking tools presents an opportunity to help reach other patients but also find researchers and build collaborations. The growth of collaborative software that can enable researchers to share their data could also enable rare disease patients and foundations to manage their portfolio of funded projects for developing new therapeutics and suggest drug repurposing opportunities. Still there are many thousands of diseases without treatments and with only fragmented research efforts. We will describe some recent progress in several rare diseases used as examples and propose how collaborations could be facilitated. We propose that the development of a center of excellence that integrates and shares informatics resources for rare diseases sponsored by all of the stakeholders would help foster these initiatives.

The brain tumor community is a unique, underserved population that has not seen significant improvements in survival over the last four decades. In the search for effective treatments for brain tumors, nonprofit patient advocacy organizations identify and fill the gaps that the for-profit sector and the government have not addressed or cannot address. Although many articles have been written on the roles of patient advocacy groups in general, or in targeted areas such as clinical trial recruitment, none have looked at the brain tumor community specifically. This review looks at the literature on patient advocacy groups and provides specific examples of brain tumor advocacy organizations that offer these services. It examines the evolution of the role of these organizations over time, and how that has been reflected in the programs and services provided. This is a collaborative effort to highlight programs and services across multiple patient advocacy organizations.

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