Together we are strong
Rare San Diego brings together patients, families, advocates, researchers, and industry leaders to strengthen connections across the local rare disease community. By creating a shared space for collaboration, education, and events, the group helps ensure that people affected by rare diseases in San Diego are supported, informed, and never navigate the journey alone.
Who
we are
To unite patients, families, advocates, researchers, clinicians, industry leaders, and policymakers in an inclusive and unbiased environment dedicated to improving the lives of people affected by rare diseases through education, collaboration, and action.
Save The Date
San Diego Rare Disease Day 2027
February 27, 2027
4:00 PM- 7:00 PM
Farmer & The Seahorse
Come join us for an evening full of community and connection on Rare Disease Day weekend!
Our Team
Bruce Windoffer
Bruce recently retired from the Rady Children’s Institute for Genomic Medicine (RCIGM) and is a rare disease advocate and former diagnostics professional based in San Diego. With a background in chemistry, genomics, and genetic diagnostics, he bridges clinical innovation and patient advocacy across the pediatric genomics ecosystem.
Bruce leads regional advocacy as an organizer for San Diego Rare Disease Day, emcees Rady's Frontiers in Pediatric Genomic Medicine Conference, and served as advisor for the Undiagnosed documentary film campaign. He also serves as Board Chair for the Research Associates of Point Loma Nazarene University, building vital coalitions that advance precision diagnostics and support rare disease families across San Diego and beyond.
Jane Maine
Jane Maine is the Founder & CEO of Contenta Meetings & Events, a full-service corporate meetings and events agency specializing in meaningful, high-impact experiences. This marks Jane’s third year supporting the planning of Rare Disease Day, a cause that holds deep personal and professional significance to her.
Jane’s passion for the rare disease community began during her time at Illumina, where she witnessed firsthand the powerful impact that advocacy can have on families navigating rare diseases.
Ryan Taft
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Sharon Terry
Sharon F. Terry is President and CEO of Genetic Alliance, an enterprise that engages individuals, families, and communities to transform health. Genetic Alliance works to provide programs, products and tools for ordinary people to take charge of their health and to further biomedical research.
Michaelle Jinnette
Michaelle Jinnette is the founder of the Cure KCNH1 Foundation. Their mission is to urgently improve the lives of individuals and families affected by KCNH1-Related Disorders by accelerating research toward the development of effective treatments and a cure, building connections within the KCNH1 patient and professional community.
Effie Parks
Effie Parks hosts the rare disease podcast Once upon a Gene that serves as a home-base for rare disease advocacy , community and connection. She is mom to 2 rad kids, one of whom has CTNNB1 syndrome. Make sure to subscribe to the podcast and follow on social media.
Rachel Vanni
Rachel Vanni is the Founder and President of The Charlie Elenore Foundation, a nonprofit dedicated to improving access to treatment for individuals and families affected by rare diseases.
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