WIB-San Diego: AI & Rare Disease – A New Era in Diagnosis and Care

WIB–San Diego recently brought together a diverse group of scientists, clinicians, entrepreneurs, patient advocates, and even parents of patients for a meaningful conversation about how artificial intelligence is shaping the future of rare disease care. During this annual panel, speakers talked not just about the technology, but about the real responsibility that comes with it—and why this work matters so deeply. Several panelists shared personal patient stories that really resonated with the audience, serving as a powerful reminder that behind every dataset or breakthrough are families navigating incredibly complex medical journeys.

The discussion was moderated by Aditi Chawla, Senior Staff Scientist at Illumina, and featured a thoughtful group of speakers: Kat Schmolly, Founder of zebraMD; Meredith Wright, Director of Clinical Innovation at Rady Children's Institute for Genomic Medicine; Tamar Grossman, CEO & Founder of La Jolla Labs Inc.; Rachel Vanni, Founder of The Charlie Elenore Foundation; and Caroline Cheung-Yiu, Founder of CURE (Complex, Undiagnosed, Rare, and Extraordinary). Together, they shared perspectives spanning research, clinical care, biotech innovation, and patient advocacy.

Throughout the conversation, panelists explored how AI is already making a difference—from helping families manage complicated logistics to enabling clinicians to analyze genomic and medical data more efficiently and identify potential diagnoses faster. They also highlighted how AI can better connect medical knowledge and bring together patients, clinicians, and researchers working on the same rare conditions, ultimately helping to shorten diagnostic journeys and improve access to care.

Beyond diagnosis, the conversation also explored the growing role of AI in therapeutic discovery and development. Advances in computational modeling are enabling researchers to accelerate RNA-based drug design and targeted therapies, dramatically reducing the time required to move from identifying a mutation to designing potential treatments. A central theme of the discussion was collaboration. As several speakers emphasized, community makes the cure. By connecting people, knowledge, and data, AI has the potential not only to accelerate scientific progress but also to build stronger communities, bringing together researchers, clinicians, patients, and advocates working toward the same goal. The event left attendees inspired by the possibilities ahead and by the shared commitment to using technology, collaboration, and compassion to improve the lives of people affected by rare diseases. 

Thank you to Travere Therapeutics and Michelle Hui for hosting the event and supporting this important conversation, and to all speakers and attendees who contributed to an evening of learning, collaboration, and inspiration. Special appreciation goes to the WIB-San Diego volunteers whose dedication made the event possible: Adee Newman, Anabel de la Garza, Carlotta Zampieri, Celia Jenkinson, Debra Robinson, Deisy Corredor, Glenda Didienne, Gothami Padmabandu, Judy Villanueva, Kat Chang, Melissa Plante, Patty Bedard, Sorina Chiorean, and Tynan Becker.

Submitted by Carlotta Zampieri