Although diseases such as Ehlers-Danlos syndrome, Sanfilippo syndrome and Hemophilia are considered rare, their impact looms large.
Rare diseases, defined as occurring in fewer than one in 2,000 individuals, affect more than 300 million people across the globe, and most have considerable unmet medical needs.
The need for more research into rare diseases is clear, but researchers face significant challenges, ranging from recruiting participants who have been diagnosed with one of the 7,000 different rare diseases to selecting meaningful endpoints to drawing conclusions. Technology has emerged as a potential solution.
