Honoring rare disease ‘citizen scientists’

citizen scientists

The global theme of this year’s Rare Disease Day (February 28) is research, and in keeping with that, we salute a very important group of people: citizen scientists. These can-do patients and family members are putting previously undiagnosed rare diseases on the map and driving the search for treatments. Citizen scientists play multiple roles: They keep scientists focused on therapeutic development, conduct online research to connect ideas, set up patient networks and data registries, raise money and start companies. They’ve earned a voice in clinical trial design and were instrumental in the passage of the 21st Century Cures Act.

Meet a few citizen scientists who have inspired us recently.

Mom-entrepreneur forms gene therapy company

citizen scientistsWhen Karen Aiach’s daughter Ornella was diagnosed with Sanfilippo syndrome A, a neurodegenerative condition, no companies were working on the disease. So Aiach left her financial career to co-found her own biotech company in her native France. Lysogene is now on track to conduct clinical trials of gene therapy for Ornella’s condition and another genetic neurologic disorder. Read Aiach’s story and visit Lysogene’s newsroom for updates.

Hillary Savoie: Parents as citizen scientists

citizen scientists

In two posts, rare disease mom Hillary Savoie blogs about the value of crowdsourced data in growing the knowledge base about rare diseases — in the case of her daughter, Esmé, a rare genetic epilepsy. Her foundation is funding work aimed at better understanding the effects of Esmé’s genetic variants.

Power to the people: Citizen science meets precision medicine

Precision medicine is the new rallying cry in healthcare, especially in rare disease. But patients and their families are increasingly impatient with the pace of academic research. Conference speakers Megan O’Boyle, Matt Might and Sonia Vallabh describe their journey into the science realm, seeking to speed up therapeutic advances. In the above video, Might demonstrates what an “n of 1” (a single patient family) can accomplish.

Genetic bone disease fuels a teen’s passion for research

citizen scientists

George Davies was born with fibular hemimelia, a rare condition in which the fibula bone in the lower leg doesn’t develop. He had leg-lengthening surgery, but curious to learn more about his condition, he delved into research. In the lab, he tested a compound that may prevent destruction of osteoblasts, the cells that lay down new bone. Details in his blog post.

Read our full citizen science series to date — and contact us if you’d like to share your story.