Science, Medicine & Sheer Will: Building a Rare Disease Foundation

10 years of the Systemic JIA Foundation

• · Only foundation for Systemic JIA -a rare, pediatric immune disease
• · Run by volunteers (mostly parents) in their spare time
• · Connects patients across the whole world
• · Works with scientists to drive research into basic science and identifying potential therapies
• · Works with regulators & pharma to drive drug development

Know the Facts Re: Rare

Diseases

WHAT IS A RARE DISEASE?

fewer than 200,000 people in the United States is considered rare. Any



An estimated

15 million children' and sadly, 30% will not live

to see their fifth birthday .

Collectively Rare Diseases are one of the largest diseases in the world. Very few of them have treatments.



1in 10 Americans

have a rare disease



That is more than

30 million

of our loved ones, friends, colleagues and neighbors:

Most rare diseases are genetic

or have a No individual or family is immune from a rare disease.



Direct medical costs for people with rare diseases are 3-5 times higher than those for non-rare diseases. Yearly, they amount to an estimated $400 billion; which is comparible to cancer, heart failure and Alzheimer's.


History and Mission



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Our simple and urgent focus is finding a cure for Systemic


• · Founded in 2014 by Jon Boutelle and Rashmi Sinha
• · Parents of a child with Systemic JIA
• · Driven by parents & patients in consultation with researchers & clinicians
• · Our mission is to drive research to find new treatments and ultimately a cure
• · Two main goals
• · Help educate and support patients, especially refractory ones
• · Promote research to find new therapies (both new drug development & repurposing of available drugs)

NextGen Therapies for SJIA conference



First NextGen conference in 2016

• · Brings together patients, researchers, regulators (FDA and EMA) and pharma to brainstorm together for two days about how to develop new therapies for Systemic JIA
• · Latest NextGen conference in November 2024. Previously in 2016, 2017, 2019 and 2022
• · Went remote during Covid, now back in person.
• · Energizes community and builds connections pushing drug development further

Part of the Rare As One Network of Patient Foundations (funded by Chan Zuckerberg


• · First network of such Rare Disease foundations
• · Most of them are parent or patient driven
• · Learn from each other


A Rare Disease Foundation is the Work of Many People

Main Academic Collaborators Alexei Grom, Grant Schulert, Hermine Brunner, CCHMC Scott Canna, CHOP Bas Vastert, UMC Utretch Fabrizio DeBenedetti, Claudia Bracaglia, Bambino Gesø, Rome Alex Pickering, Harvard Univ

Parents Luciana Pereira Leah Bush Hanyi Chrisman Anna Carlson Kari Cupp and many more…

Founder Rashmi Sinha & Jon Boutelle