Hope through novel diagnostics and treatments: The Connecticut Rare Disease Forum

Nearly 200 experts from the rare disease industry gathered at The Jackson Laboratory for Genomic Medicine in Farmington, Conn., on March 7 for the Connecticut Rare Disease Forum. 

The event, co-hosted by BioCT and The Jackson Laboratory, brought together leaders from biotech and pharmaceutical companies, as well as patient advocates and the public, to explore advancements and challenges in the field with a focus on diagnostics, treatments and collaboration.

Opening remarks included Jodie Gillon, president and CEO of BioCT, who highlighted the significance of Farmington as a bioscience hub and emphasized The Jackson Laboratory’s potential to unravel the mysteries of rare diseases. Lon Cardon, Ph.D., FMedSci, president and CEO of The Jackson Laboratory, continued discussing JAX’s commitment to rare diseases, underscoring the institution's history, including the renowned McKusick Short Course, which has been instrumental in advancing the biomedical field’s understanding of rare diseases.

The event featured a patient advocacy pavilion in which representatives from organizations including The National Organization for Rare Disorders, United ALS and Rare New England shared information and resources. In addition, JAX’s Rare Disease Translational Center  participated, emphasizing their hand-in-hand work with patient advocacy organizations and families, industry, and academia to accelerate the rare disease research pipeline. The center currently collaborates with over 40 organizations and companies to execute rare disease research studies and to solve complex research problems.

With a wide breadth of knowledge and expertise, the event featured panelists from organizations like Alexion, Point32Healh, OrphAI Therapeutics, Rallybio, Trevi Therapeutics, Boehringer Ingelheim, and the The Yale NORD Center of Excellence for Rare Disorders. Conversations revolved around deployment of diagnostic tools, access to genome sequencing, education within the health care system, and the leadership required to develop and execute rare disease solutions. Discussions repeatedly focused on the importance of partnerships between industry, academia, patients and patient advocacy groups in advancing research and improving outcomes for those with rare diseases.

Citing the discovery of three new rare diseases each week, and the challenges in translating gene discoveries into treatments, Cardon stressed the recognized importance of collaboration in the field.

“It was an honor and privilege to convene leading minds from diverse sectors to discuss the future of rare disease diagnostics and treatments,” said Cardon. “It will take all of us in academia, research, industry, government, nonprofits and others to accelerate treatments for rare disease patients. We are at a critical inflection point and our commitment extends beyond incremental steps: we aim to expedite solutions for the rare disease community. We are deeply grateful for all who attended and participated, and I look forward to building on the momentum with urgency.”