ABSTRACT
One of the most startling medical advances of the last few years has been the rise in treatments for rare genetic diseases, which have long been considered too tough to tackle and not profitable by the pharmaceutical industry. However, because their conditions are usually caused by genetic mutations, people with rare diseases are uniquely positioned to benefit from the advances described in Chapter 2. But scientists are now enthusiastically pursuing new treatments for rare diseases, aided by an unusual partner: patients. With the rise of the “citizen-scientist,” researchers and drug companies have taken notice and are starting to include patients in clinical trial planning, finding what matters to patients isn’t always what matters to researchers. Social media has led to new ways to share rare disease information and identify patients in far-flung locations. In this chapter, we describe how data and technology are accelerating rare disease research and changing pharmaceutical companies’ minds about the profitability of treatments in very small populations.
