Jan 12, 2022 36:11 min listening

2 Rare As One Grantees on Why They Founded Patient-Driven Research Organizations

A pink image with colorful science and community illustrations.

Rare disease is not rare. As many as 7,000 rare diseases affect 400 million people globally. CZI’s Rare As One Project brings together rare disease patients and advocates in their quest for cures.

Patients are experts in their disease. Their knowledge has the power to dramatically accelerate the pace of research, providing critical insights about diseases, fueling significant discoveries, and driving research breakthroughs. We work to support their efforts by offering new tools, grants programs, and capacity-building support and training.

Listen above to two of our Rare As One grantees share their stories and experiences navigating diagnosis and organizing their communities to accelerate research, identify treatments, and change the course of their diseases. Patient advocate Jenn Perry of the Li-Fraumeni Syndrome Association discusses the conference that changed her life, while parent advocate Donna Appell shares how her daughter’s diagnosis inspired her to start the Hermansky-Pudlak Syndrome Network and travel to Puerto Rico in search of other families with this disease.

This story was written and produced by The Story Collider, a podcast that tells true, personal stories about science, in partnership with the Chan Zuckerberg Initiative. For more stories like this one, visit the show’s website.

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