Innovative Funding Models for Rare Diseases

Abstract

In the field of human genetic diseases, approximately 7,000 different diseases account for approximately 10 \% of the total disease prevalence. For rare disease research, it is a very difficult task for a central, top-down entity to create and fund research for so many different diseases. With the traditional research model, therapies have been developed for less than 500 of these diseases, meaning that more than 9 in 10 diseases do not have any type of therapy. Current solutions to this problem have leveraged a bottom-up approach to allow for many stakeholders to contribute from their perspectives, a method often referred to as ``crowdsourcing{''}. Here, we propose the crowdsourcing model for both research as well as funding as a suitable way forward for rare disease research. Spurred on by the dual advances in crowdfunding and genomics, we at the Rare Genomics Institute are trying to combine these aspects to advance understanding and progress towards a cure for all 7,000 rare diseases. Because these projects are unique and often do not fit into existing grants, a web page for each patient is created and the funds collected go directly to the research for that patient. This chapter discusses how crowdfunding provides a powerful alternative funding mechanism to complement the existing infrastructure.