Today, approximately 10,000 rare diseases collectively affect over 400 million people around the world. Half of these diseases affect children, one-third of whom will die before their 5th birthday. The vast majority of these diseases are poorly understood, with limited knowledge of the underlying biology or natural history.
Inspired by the growing number of patient-led, rare disease organizations seeking to drive forward research in this area, in 2019, CZI launched the Rare As One (RAO) Project, a program aiming to elevate patient communities as central stakeholders in research. Foundational to the program is the Rare As One Network, currently consisting of 94 patient-led rare disease organizations funded across multiple grant cycles. Hoping to catapult progress, organizations funded as part of the Network were typically early in their development. The majority were entirely volunteer-led, and few leaders of these organizations had prior nonprofit or scientific expertise. Rather, they found themselves stepping up to roles they never expected or wanted when they or their loved ones were diagnosed with a disease for which medicine had no answers. Driven to create a better future for themselves, their loved ones, and future patients, these leaders left behind their previous lives, and brought their unique background and skills — as stay-at-home moms, social workers, actors, lawyers, scientists, educators — to this work, along with love, urgency and a relentless determination unparalleled in research.
We’re proud to share the Rare As One Cycle One Impact Report, which highlights some of the incredible achievements of the first 30 organizations funded in the program. RAO grantees built strong patient communities, identifying and engaging patients from around the world; provided mental health supports for their communities; launched awareness campaigns addressing diagnosis; supported the development of ICD codes; and funded and partnered in research, aligned with community-established priorities. Importantly, they advanced biomedical science by building or supporting the development of essential research-enabling assets and infrastructure, including Centers of Excellence, natural history studies, registries, biobanks, cell lines and animal models that are enabling critical, data-driven insights into rare disease mechanisms, characterization, and progression; published diagnostic and treatment guidelines; and partnered with industry and regulators to support clinical trial design and recruitment. These small but mighty patient-led organizations, collaborating and working in partnership with global researchers, clinicians, industry, regulators and policy-makers, have significantly transformed their fields.
Explore the full report.