Significant advancements in a range of scientific tools and methodologies presents a critical time to research rare diseases and make a difference for the families affected by these often fatal conditions.
While the rare disease landscape is still marked by complex questions and challenges, the field has seen significant progress. This evolving – and hopeful – narrative was a focal point of the rare disease panel, featuring JAX President and CEO Lon Cardon Ph.D., FMedSci., at the Yale Innovation Summit, an annual gathering of innovators, investors, and industry leaders.
Celebrating its tenth year, the Summit brought together global leaders for two days of discussions, networking, and competitions. Known as one of the region’s premier events, it featured five tracks: arts, biotech, climate, health, and technology.
The atmosphere at the summit, which took place May 29-30 at Yale’s School of Management in New Haven, was charged with optimism fueled by the exchange of ideas and the pursuit of real solutions to pressing issues such as climate change, healthcare costs and implementation of new technology. Attendees visited rows of large-screen poster “pitches” for funding and introduced themselves to likeminded entrepreneurs between sessions.
The New Opportunities in Rare Disease Panel, moderated by David Scheer, president of Scheer & Company and co-founder of Achillion Pharmaceuticals, gathered leaders from key sectors of the healthcare industry. The panel included: Nina Kjellson, general partner at Canaan who invests in biopharma companies that serve unmet therapeutic needs; Martin Mackay, co-founder of Rallybio and previous president of research and development at AstraZeneca; Matt Klein, chief executive of PTC Therapeutics; Michele Spencer-Manzon, associate professor of genetics and pediatrics at Yale University; and Cardon, who has dedicated his career to translating genetic discoveries for both rare and common diseases into improving human health.
The many challenges of the rare disease field
The panel delved into myriad challenges within the rare disease field, engaging a captivated audience in the full auditorium. Scheer set the tone at the outset by sharing a personal story from a friend and emphasizing the need to humanize the issues at hand—a recurring theme throughout the discussion.
During the panel, Cardon reflected on his transition from chief scientific officer and chief scientific strategy officer at BioMarin Pharmaceutical Inc., a rare disease biotechnology company, to JAX, where researchers are studying mouse and human genetics and genomics to make strides in rare disease research, including at JAX’s Rare Disease Translational Center. "Can I move this target enough to make a difference?" he said. "That’s what I came to JAX to do."
The group discussed a number of challenges and opportunities, including the sometimes prohibitive costs for rare disease therapies and how patients might work with providers to bring those costs down, groundbreaking new screenings and treatments for rare diseases, including the promise of whole genome sequencing for newborns – which may diagnose and treat these conditions early enough to be lifechanging, and the idea that rare disease therapies may provide crucial insights for common disease therapies – and vice versa.
“There has never been a better time to invest in rare disease research,” Cardon said. He noted that advancements in a range of scientific tools and methodologies – including the use of iPSC cells and organoids, with the promise of AI to analyze the data – provide the innovative new platforms researchers need to uncover solutions for those affected by these conditions. Cardon and fellow panelists emphasized that collaboration between institutions is essential to getting this important work done rapidly.
The future of rare disease research
The panel itself was an example of the collaborative partnerships emerging to conduct this type of cutting-edge research. In September, biotech Actio Biosciences announced a $55 million Series A financing to advance its precision medicine approach for rare and common diseases. The company partnered with JAX to develop transgenic models of rare disease pathways, enhancing their drug discovery capabilities. One of the leading healthcare investors for the project was Canaan, represented by Kjellson on the panel.
Reflecting on key takeaways following the event, Cardon said, “We have come a long way, even in the past decade, when it comes to rare disease research and development. While we must address costs and other issues, we now have diagnostics and tools that didn’t exist before. Science is no longer the biggest barrier to discovery in rare disease. We have much more work to do, but this is progress. It means we have solutions available, with more on the horizon, and can provide answers to the rare disease families affected by these devastating conditions.”