Our panel of experts discusses gaps in patient care and how new technology is making new rare disease treatments more accessible.
Tim Guilliams
Co-Founder and CEO, Healx
How can AI-driven drug discovery help unlock new therapies for rare disease patients?
AI allows us to move beyond single-target thinking and understand rare diseases as complex biological systems, even when the underlying biology is poorly understood. By applying AI to multi-omic and phenotypic data, we can uncover novel disease mechanisms and design therapies that would be missed by traditional approaches.
What approaches are most promising for addressing unmet needs in rare diseases?
Target-agnostic, AI-enabled discovery approaches that focus on novel biology and first-in-class mechanisms are particularly promising in rare diseases, where validated targets often don’t exist. Just as important is deep collaboration with patient foundations, which bring essential disease insight, data, and urgency to the development process.
What is the biggest opportunity to improve patient outcomes in rare disease research?
The biggest opportunity is aligning advanced AI with patient-relevant biology early in development to increase the likelihood of clinical success. When discovery, translational science, and patient insight are integrated from the start, we can accelerate timelines and deliver treatments that are safer, more effective, and meaningful for patients.
Charlene Son Rigby
CEO, Global Genes
From Global Genes’ perspective, where do you see the biggest gaps in the rare disease patient journey today?
Rare disease patients face critical challenges, starting with delayed diagnosis. Patients often endure years of misdiagnoses and diagnostic odysseys before receiving accurate answers, leading to prolonged suffering and potentially irreversible disease progression. Once diagnosed, patients struggle with a lack of recognition and support from healthcare systems not designed for rare conditions, resulting in fragmented care, social isolation, and difficulty accessing specialized expertise or connecting with other patients facing the same challenges. Finally, limited research investment and small patient populations make developing new therapies challenging, leaving many rare diseases without effective treatments and forcing patients to navigate an underfunded landscape where therapeutic options remain desperately scarce.
What role does Global Genes play in helping advance innovation and improve access to therapies for rare disease patients?
Global Genes is dedicated to eliminating the burdens and challenges of rare diseases for patients, their families, and disease communities globally. Through our Rare Concierge program, we assist patients by connecting them with resources and support; through our education and research programs, we develop patient advocacy leaders and provide them with critical tools to advance research and activate their communities. We also enable the development of ecosystems of patient advocates, biopharma, and researchers to accelerate urgently needed progress in rare disease.
