Scientists, patients, advocates, legislators, industry leaders and investors convened to highlight collaborative efforts and technological advances in rare disease research.
(Farmington, Conn. – March 13, 2025) – Patients, and the cutting-edge research that could save their lives, were central to the discussion at the Connecticut Rare Disease Forum, held at The Jackson Laboratory on Monday. The event, co-hosted by JAX and BioCT brought together industry leaders, researchers, legislators, and advocates to assess the current state, challenges, and future directions in rare disease diagnostics and treatments.
Lon Cardon, JAX president and CEO, opened the Forum with remarks
about his career-long commitment to advancing rare disease research and JAX’s patient-driven mission that is exemplified by its Rare Disease Translational Center (RDTC).“Part of our role at JAX – and one we are very proud of – is being a convenor,” said Cardon, noting the range of attendees in the crowd – from pharmaceutical business leaders and venture capitalists to advocacy groups and scientists. “When it comes to rare disease it takes a village. And we are here to work with you toward real solutions.”
In the U.S., more than 30 million people live with rare diseases, and globally, the number exceeds 350 million. Despite the identification of more than 10,000 rare diseases, fewer than 5% have FDA-approved treatments.
JAX has led and supported rare disease research around the world for decades. In 2022, JAX launched the RDTC to empower rare disease solutions through partnership, innovation and scaled pre-clinical pipelines, with the goal of delivering targeted therapies from lab to clinic swiftly and effectively. The RDTC works closely with advocacy groups, rare disease families, and other biomedical organizations, on an intricate process that includes engineering precision mouse models, then characterizing and testing therapeutic approaches that provide invaluable preclinical data.
Jodie Gillon, CEO of BioCT, provided comments before the keynote, which was delivered by Cat Lutz, vice president of the RDTC.
“JAX is changing the paradigm around rare disease research,” Gillon said. “We have the raw ingredients to solve these issues in this room. We can lift barriers today.”
The power of collaboration was central to Lutz’s talk, which outlined her extensive experience in rare disease research, and how the RDTC’s approach is working to amplify existing research and identify therapeutic solutions for often-fatal conditions.
“When I think about rare disease, I think about how far we’ve come – but also about what else needs to be done to take us to the next level,” said Lutz, noting the incredible progress in genome editing and other transformative research tools in recent years, allowing for new breakthroughs in rare disease, as well as the possibility of translating those findings to more common ones.
“This convergence of technologies, all at the same time, will be historic,” she continued. “We, as a community, need to come together and think about doing things differently than we’ve done before.”
She relayed RDTC successes, including working with 85 distinct disease programs and conducting more than 250 preclinical studies since 2021, and highlighted funding that has allowed scientists to target specific conditions with the aim of using preclinical genome editing to uncover effective therapies. For instance, a five-year $22.8M grant from the National Institute of Neurological Disorders and Stroke (NINDS) in 2023, which allows collaborators at JAX, The Broad Institute, Massachusetts General Hospital, Boston Children’s Hospital and UT Southwestern Medical Center to develop and validate new therapeutic approaches for four neurological conditions: spinal muscular atrophy, Friedreich's ataxia, Huntington’s disease, and Rett syndrome.
Following the keynote, there were two panel discussions. The first, “Innovation in Discovery & Translation,” focused on the importance of genomics, data sciences and diagnostics in developing rare disease therapeutics, and featured. The second, “Bringing Science to the Patient,” featured a discussion about realistic strategies for moving towards durable responses and cures.
The panels and audience questions that followed tackled topics including biopharmaceutical funding, quality of life for rare disease patients, the logistical challenges of drug trials and how newborn sequencing could revolutionize rare disease diagnosis.
Panelists and attendees continually brought the conversation back to the patients at the heart of each rare disease journey, noting the burden families face in raising funds and awareness, and their dependence on the continued collaboration of groups like those in the room.
“We have to focus on serving as a catalyst to speed up the process,” said Pam Gavin, CEO of the National Organization for Rare Disorders, during the panel discussion. “Rare disease is everywhere and affects everyone. The path to success requires working together.”
State Senator Tony Hwang, co-chair of the legislature’s bi-partisan Bioscience Caucus and longtime advocate for the state's bioscience ecosystem, closed out the program sharing his insight on bills currently before the legislature that impact the rare disease community. Sen. Hwang applauded the wide range of different rare stakeholders in attendance and encouraged their continued collaboration and engagement as the legislature considers policies to improve outcomes for those with rare disease..
About The Jackson Laboratory
The Jackson Laboratory is an independent, nonprofit biomedical research institution with a National Cancer Institute-designated Cancer Center and nearly 3,000 employees in locations across the United States (Maine, Connecticut, California), Japan and China. Its mission is to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health. For more information, please visit www.jax.org . To learn more about JAX’s rare disease research, visit the Rare Disease Translational Center webpage.
About BioCT
BioCT’s mission is to catalyze and accelerate growth in the life sciences with the goal of improving human health, by fostering a rich, innovative ecosystem and promoting Connecticut as a preferred destination for life science exploration and innovation. Learn more at www.bioct.org.
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