Attending World Orphan Drug Congress 2025
And hanging out with my college roommate ;)
Calling me from her car, my college roommate shared “I have a conference in town this week.” “I’m going to a conference in town, too!” I replied (most likely squealed). By “in town”, we were both referring to Boston, Massachusetts, and the venues were just across the street from each other. She generously invited me to stay at the hotel with her, and this made attending World Orphan Drug Congress much easier, since I didn’t have to contend with Boston’s epic traffic (the 4th worst in the country). Plus, I had the added bonus of hanging out with Mo in the evening.
WODC (World Orphan Drug Congress) sessions include topics on cell & gene therapy, precision medicine, clinical development, market access, pricing & reimbursement, the impact of AI, regulation & policy, scientific breakthroughs, pipelines, and patient centricity & advocacy.
World Orphan Drug Congress brings together an incredible community of biopharma leaders, researchers, doctors, patients, patient advocates, caregivers, care partners, service providers and innovators all around, who are focused on improving the lives of people living with rare diseases through accelerating the development of medications, treatments and therapies. This year highlighted the advancement of AI-driven drug discovery, while reinforcing the vital inclusion of the patient voice in clinical research. True progress requires both cutting-edge science and unwavering compassion.
An added bonus of conference attendance is catching up with colleagues. I got to spend time with leading patient advocacy & clinical design experts Richie Kahn & Jennifer McNary of Canary Advisors, as well as patient advocate & engagement expert, Ella Balasa of Balasa Consulting. Richie, Jennifer & Ella all spoke at different sessions and delivered informed and heartfelt insights about healthcare impacts, clinical research and the rare disease community.
I attended multiple sessions, and key themes included:
Patient-centered research: moving beyond lab metrics to capture lived experiences
Ethical AI integration: leveraging technology without losing sight of humanity
Long-term data strategies: balancing innovation with empathy in follow-up care
Listening Beyond the Numbers: Capturing Joy
The session “The Value of Patient Experience Data to Advance Rare Disease Research,” distilled a powerful message: data isn’t just about numbers. Patient narratives, stories told in their own words, can illuminate dimensions of treatment efficacy that traditional endpoints might miss.
When patients say things like “my hands shake less, so I can quilt again,” or “I have less brain fog, so I can drive safely to my quilting group,” they offer insights into what truly matters in daily life. These anecdotes may seem granular or subjective, but they capture a joy and function that standard scales cannot measure.
The panel also emphasized how storytelling plays an essential role in Institutional Review Board (IRB) meetings. By sharing what patients feel and experience outside the clinical setting, researchers can foster more patient-centered clinical trial designs. This approach ensures research reflects not just statistical improvements, but real-life outcomes that matter to patients and families.
The Role of AI in Rare Disease Research: Promises and Proof
AI is leading the charge in innovation. At “AI Driven Expansion: Transforming Rare Disease Treatment,” Onocross showcased its AI-powered platform, which helps identify new disease indications for existing medications.
A significant aspect of Onocross’s approach lies in their custom large language model (LLM), which works hand-in-hand with a dedicated wet lab for experimental validation. This means that AI-generated predictions about potential repurposing of drugs for conditions like Dravet Syndrome, ALS, and muscular dystrophies are scientifically tested in-house before advancing.
This marriage of machine intelligence and biomedical rigor illustrates the promise of AI: faster, smarter hypothesis generation, followed by real-world verification. It’s a crucial reminder that while AI expands the possibilities, human judgment and scientific evidence must always shepherd these innovations to the clinic.
Scaling Solutions: the Convergence of AI, Genomics & Infrastructure
The session “Unlocking the Future and Convergence of AI, Personalized Medicine and Genomics” highlighted both opportunities and challenges. AI is uniquely adept at teasing out meaningful signals from the enormous, complex data sets generated by full gene sequencing—potentially unlocking faster, more accurate diagnoses for rare disease patients who are often misdiagnosed.
Yet, robust application depends on high quality, diverse data and validated outputs. As the panelists observed, AI is only as good as the dataset it’s trained on. Without careful planning and thoughtful connection of patient data sources, there is real risk of bias or error in AI-driven decisions. Building the infrastructure to enable secure, meaningful, and ethically sound data sharing will be a defining challenge, and opportunity, in the years ahead.
Long-Term Follow-Up: Data, Technology, & the Human Touch
“Cell and Gene Therapy Long Term Follow Up: Innovative Technology and Data to Support Delivery for Rare Disease Populations,” focused on the necessity, and the practical challenges, of long-term patient monitoring. Data collection doesn’t end when clinical trials do; ongoing follow-up helps safeguard patient safety and provides valuable insight for future therapies.
Innovations like telehealth and wearable devices can relieve logistical burdens for patients, clinicians, and sponsors alike. However, technology cannot fully replace the human connections and compassionate care that define effective rare disease research. While technological tools can accelerate and expand our reach, empathy and partnership are irreplaceable.
Why This Conference Means So Much to Me
In a prior role (shoutout to Joan Chambers, a super savvy marketing professional and all around wonderful person) I met Richie and Jennifer, and many other patients, family members and advocates, when I interviewed them for an article series about the importance of clinical trials. Everyone is going through something in this world, and I learned from extraordinary members of the rare disease community, (along with their families, caregivers and care partners) about navigating incredibly difficult circumstances with grace, grit and wit.
These conversations have been among the most impactful of my life.
I am grateful for having the opportunity to share their stories. Through Joan, Richie and Jennifer, I have had the privilege of joining the Board of One Rare, founded by Jennifer and her adult son, Austin Leclaire, who lived with Duchene Muscular Dystrophy. One Rare provides resources and opportunities to improve the lives and futures of young adults, aged 18-35, living with rare disease, through education, mentoring, recreation and peer support. (Shameless plug, please follow us here on LinkedIn). World Orphan Drug Congress brings truly compassionate stakeholders from all over the rare disease clinical research ecosystem. It’s a next-level energy field, and I always feel inspired and uplifted.
Plus, I got to spend time with Mo :)
Authored by Melissa Daley, CMO
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