We often say at March, “You are not alone.” This isn’t just a tagline; it’s the core belief driving our mission. The journey through rare disease, chronic illness, or any significant health challenge can feel incredibly isolating. But what happens when personal drive converges with community support and cutting-edge technology? A world of possibilities ignites.
This spark of possibility was the drive at our recent GenAI x Rare Disease event, held at UC Berkeley. We brought together patients, parents, researchers, and advocates to explore how artificial intelligence can genuinely serve the rare disease community.
Among the day’s powerful stories was that of David Apple, a father turned biotech founder, whose journey exemplifies the blend of fierce love, entrepreneurial spirit, and technological hope that defines so much of the rare disease landscape.
From a Parent’s Dreaded Call to a Biotech Mission
David Apple isn’t your typical biotech founder. With a background in mechanical engineering and successful leadership roles at tech unicorns like Notion and Typeform, his path took a sharp, personal turn about two years ago. He received the call every parent fears: his young son, Ari, was diagnosed with Charcot-Marie-Tooth disease type 1A (CMT1A), a progressive genetic neurological disorder with no treatment or cure.
“It turns out that CMT1A is the most common rare disease without any treatment or cure,” David shared, putting the scale into perspective – affecting 1.6 million people worldwide. Faced with the stark reality of watching his son’s condition potentially worsen, David did what many driven parents in the rare disease community do: he dove in. He left his C-level tech role, joined the board of the CMTA (Charcot-Marie-Tooth Association), and immersed himself in the science.
He discovered both hope and frustration. Hope came from 2017 research showing that interfering RNA technology (specifically ASOs) could not just halt, but reverse CMT symptoms in mice. The frustration? The experiment was shelved due to toxicity concerns at the required dosage. “What that means to me,” David explained, “is that the problem of CMT1A… is half solved.”
Seeing this gap, where advancements in RNA science hadn’t been applied to CMT1A, David founded Shark Tooth Biotech. His approach? Focused “drug assembly” rather than traditional discovery. He partners with research labs and startups, funding their work to test existing delivery technologies for CMT1A, aiming for “higher speed, lower cost, and more shots on goal.”
David’s journey wasn’t just scientific; it was deeply emotional. “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,” he admitted, recalling periods of intense emotion but also the “euphoric high” of potential breakthroughs.
Diverse Voices, Shared Challenges: Insights from the Panel
David’s drive set the stage for a rich panel discussion accompanied by other diverse perspectives: Dan Fletcher (Bioengineering, UC Berkeley), Dr. Saddaf Ashtari (Information Systems & Rare Disease Researcher), Laurel Crosby Delof (Stanford Genome Technology Center), Natalia Vassilieva (AI Systems, Cerebras), and JC Muyl (Founder of MyRareData). The conversation tackled key challenges and opportunities at the intersection of AI and rare disease.
Accelerating the Diagnostic Odyssey:
The panel echoed the painful reality of diagnostic delays (averaging 7-9 years). Laurel emphasized moving beyond symptom constellations, needing deep genetic and biomarker data to build accurate models.
Natalia described how AI, using techniques like embeddings on clinical notes, can find hidden similarities between patients, aiding diagnosis. Crucially, David highlighted the need to empower families as drivers, as they are often the most persistent advocates when doctors dismiss concerns.
Navigating the Data Labyrinth:
Rare means scarce data, often fragmented across silos. Dan spoke about the need for more accessible diagnostics to gather crucial biomarker data beyond genomics (environmental, microbiome) and getting that data back into the system ethically.
Saddaf, pointed out that even with digital records, true interoperability (sharing data between systems and locations) remains hampered by workflow and behavioral barriers, not just technology. The potential of AI to make sense of multimodal data (text notes, imaging, genomics), as Natalia discussed, offers immense promise for finding patterns invisible to the human eye, like predicting drug responses.
AI’s Role in Community & Connection:
Beyond the lab, how can AI support the lived experience? Saddaf noted AI’s clear potential for meeting informational needs, summarizing research, and explaining complex terms. However, she cautioned that the vital emotional support and sense of belonging patients crave requires more than algorithms; it needs genuine human connection, perhaps facilitated or structured by AI, but not replaced by it.
Responsible Innovation & Avoiding Pitfalls:
The panelists urged caution alongside optimism. David stressed the importance of figuring out where to apply AI for maximum impact, rather than technology for technology’s sake.
Natalia and Laurel highlighted the critical need for partnership between AI experts and clinical/biological experts to validate models and interpret results correctly. Laurel also warned against treating AI outputs as infallible truth, reminding us that scientific understanding evolves and current data can reflect flawed paradigms.
Sadaf and Dan reiterated the irreplaceable role of human oversight, empathy, and the need for real-world data to test hypotheses generated by AI. They cautioned against hype (invoking the Theranos example) and stressed the importance of verifiable, reproducible science.
A particularly moving moment came from an audience member who shared their multi-million dollar medical journey, feeling lost, and ultimately having to become their own “vector” for finding solutions, painstakingly researching clinical trials. JC Muyl framed this perfectly: while the burden shouldn’t fall on the patient, AI now offers unprecedented superpowers: access to knowledge, data synthesis, communication tools to empower these patient vectors.
Marching Forward, Together
The stories and discussions at our AI x Rare Disease event reinforced the core principles behind March. We see the immense potential of AI, not as a cold, distant technology, but as a tool to amplify human connection, accelerate understanding, and empower individuals.
We are building March to be that trusted space. A place where patients and caregivers find reliable information curated and explained with AI assistance, and connect with others who truly understand. It’s about bridging the gaps between research and lived experience, between data and empathy.