March's foundational belief -- "You are not alone" -- resonates deeply with those navigating rare disease, chronic illness, and significant health challenges. The organization recently hosted a GenAI x Rare Disease event at UC Berkeley that brought together patients, parents, researchers, and advocates to explore how artificial intelligence can serve the rare disease community.
From Parent to Biotech Founder
David Apple's story exemplifies the intersection of personal determination, entrepreneurial vision, and technological hope in rare disease innovation. Originally a mechanical engineer with leadership experience at tech companies like Notion and Typeform, Apple's trajectory shifted dramatically two years ago when his young son, Ari, received a diagnosis of Charcot-Marie-Tooth disease type 1A (CMT1A).
Confronted with a progressive genetic neurological disorder affecting 1.6 million people worldwide without available treatments or cures, Apple made a significant life change. He stepped away from his executive technology position, joined the CMTA board, and immersed himself in understanding the science behind his son's condition.
A Half-Solved Problem
Apple's research uncovered both encouraging findings and frustrating gaps. Research from 2017 demonstrated that interfering RNA technology could halt and potentially reverse CMT symptoms in mice. However, this line of investigation stalled due to toxicity concerns at necessary dosages. Apple describes this situation as one where "the problem of CMT1A is half solved."
Identifying this critical gap in applying advanced RNA science to CMT1A, Apple founded Shark Tooth Biotech. The company employs a strategic "drug assembly" approach rather than traditional discovery methods, partnering with research labs and startups to test existing delivery technologies for CMT1A with the goals of accelerating timelines, reducing costs, and increasing experimental opportunities.
The Emotional Dimension
Apple acknowledged the unique emotional intensity of entrepreneurial work focused on personal health crises: "Any founder journey is a roller coaster... when you're working on something so personal... the highs are much higher and the lows are much lower."
Expert Panel Discussion
The event featured perspectives from Dan Fletcher (UC Berkeley Bioengineering), Dr. Sadaf Ashtari (Information Systems and Rare Disease Research), Laurel Crosby Delof (Stanford Genome Technology Center), Natalia Vassilieva (AI Systems, Cerebras), and JC Muyl (MyRareData founder).
The Diagnostic Odyssey
Panelists highlighted the painful reality of diagnostic delays, which average 7-9 years for rare disease patients. Delof emphasized moving beyond symptom identification toward deep genetic and biomarker data to construct accurate diagnostic models. Vassilieva described how AI techniques, such as clinical note embeddings, can identify hidden patient similarities to support diagnosis. Apple stressed the importance of empowering families as primary advocates, since they frequently persist in pursuing answers when healthcare providers dismiss concerns.
Data Fragmentation and Integration
Rare diseases mean limited data, frequently scattered across disconnected systems. Fletcher discussed the necessity for more accessible diagnostics to gather comprehensive biomarker information beyond genetic data -- including environmental and microbiome factors -- while maintaining ethical data sharing practices. Ashtari noted that even with digital health records, true interoperability between systems remains hampered by workflow and behavioral obstacles beyond purely technological limitations.
The potential for AI to synthesize multimodal data -- combining clinical notes, imaging, and genomics -- offers substantial promise for identifying patterns invisible to human analysis, including predicting individual drug responses.
Community Connection Beyond Algorithms
Ashtari emphasized AI's clear utility for addressing informational needs, synthesizing research, and clarifying complex concepts. She cautioned, however, that the emotional support and belonging patients require extends beyond algorithmic solutions, necessitating authentic human connection -- potentially structured or facilitated by AI, but not replaced by it.
Responsible Innovation and Caution
Panelists urged balanced optimism tempered with careful consideration. Apple stressed identifying optimal AI applications rather than pursuing technology for its own sake. Vassilieva and Delof emphasized the critical importance of collaboration between AI specialists and clinical experts to validate models and correctly interpret findings.
An audience member shared their multi-million-dollar medical journey and struggle to navigate solutions independently, which Muyl framed as patients becoming their own vectors for finding answers. He suggested that AI now provides unprecedented capabilities: knowledge access, data synthesis, and communication tools to empower these patient-driven efforts.
Moving Forward Together
The event reinforced March's core principles regarding AI's potential not as cold technology but as a tool amplifying human connection, accelerating understanding, and empowering individuals. March aims to serve as a trusted space where patients and caregivers access reliable, AI-curated information and connect with others sharing their experiences -- bridging gaps between research and lived experience, data and empathy.