How patients are driving transformative science in rare disease

In this panel discussion Katie Couric, Tania Simoncelli, Jennifer Canvasser, Nasha Fitter, and Monkol Lek discuss how patients are driving transformative science in rare disease.
As many as 10,000 rare diseases affect over 300 million people globally, but many rare disease patients have never met anyone else with their condition. So how do patients connect and drive research in their communities?
Tania Simoncelli, VP of Science in Society at CZI; Jennifer Canvasser, Founder and Executive Director of the NEC Society; Nasha Fitter, Co-Founder of the FOXG1 Research Foundation; and Monkol Lek, Assistant Professor of Genetics at Yale School of Medicine and rare disease patient, join Katie Couric to discuss how patients and researchers are partnering to transform the research ecosystem and advance treatments and cures for their communities.
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[@aileensteele7298]

A group of remarkable people making a difference.

[@donnabaardsen5372]

I hsve a laundry list of health challenges:
EDS, SLE, Sjogrens, scleroderma, Hashimotos thyroiditis, RA, OA, syroke at 25, heart attack at 44, and on the list goes. I'm thankful for medical researchers fighting to make life better for those of us with rare and especially overlapping medical mysteries.

[@MeltedPearls]

I'm sorry for your troubles. I hope genetic research will help you, at least with symptom management.

[@cdk1473]

I have Antiphospholipid Syndrome. I just had a surgery CTEPH/ PTE surgery.

[@MeltedPearls]

Every single symptom is "anecdotal" unless proven with a test, yet doctors rely upon patient testimony to guide treatment, so the tendency of medical practitioners to often scoff at treatments/discussions that at least begin with anecdotal patient reports is really obsolete. The approach this video shows makes a LOT of sense, and is the only option for some, as these guests have shown. The idea that people who are a part of the disease community can also become a part of the medical and research establishment is a refreshing reality, too!!

[@thomaswilson7441]

👍🏻💯🌹🌹🌹

[@livinglife4835]

Omgosh, Katie's constant coughing and clearing her throat is so annoying as well as unprofessional. Im surprised with hrt gast experience she would allow herself to continue. Stop the filming, get some water.