Building a Rare Disease Foundation

Building a Rare Disease Foundation

• 1. 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

• 2. Collectively Rare Diseases are one of the largest diseases in the world. Very few of them have treatments. Know the Facts Re: Rare Diseases

• 3. History and Mission First NextGen conference in 2016 • 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)

• 4. 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

• 5. Part of the Rare As One Network of Patient Foundations (funded by Chan Zuckerberg Foundation) • First network of such Rare Disease foundations • Most of them are parent or patient driven • Learn from each other

• 6. A Rare Disease Foundation is the Work of Many People Parents Luciana Pereira Leah Bush Hanyi Chrisman Anna Carlson Kari Cupp and many more… Main Academic Collaborators Alexei Grom, Grant Schulert, Hermine Brunner, CCHMC Scott Canna, CHOP Bas Vastert, UMC Utretch Fabrizio DeBenedetti, Claudia Bracaglia, Bambino Gesù, Rome Alex Pickering, Harvard Univ Founder Rashmi Sinha & Jon Boutelle