Communications Manager

A $160 million 'moonshot' backs Boston effort to revolutionize rare disease treatment. By Allyson Chiu Globe Staff, Updated July 21, 2026, 8:00 a.m. The Broad Institute, Boston Children's Hospital, and Maine's Jackson Laboratory announced a collaboration Tuesday to develop gene therapies for people with rare diseases and to make the life-saving therapies cheaper and more accessible to patients. With relatively few gene therapies on the market, families of children with rare genetic disorders have few options but to partner individually with researchers and raise millions of dollars to develop treatments for their conditions. The newly formed nonprofit Center for Therapeutic Genetics will create precision medicines and share those methods, data, and training with other clinicians so they can do the same. The goal is to make these personalized treatments more like clinical procedures, such as organ transplants, so doctors don't have to seek separate regulatory approvals for each use, said Dr. Winston Yan, founding director of the new center. "Rare disease families, they carry too much on their shoulders today, and it just feels so unfair," Yan said. "If we achieve our vision, we think there's a world in which those families can just show up to such a center and have this be the standard of care. You get a genetic diagnosis? Well, here is a procedure that will get you your genetic treatment, and that feels really exciting to me." One in 10 Americans lives with a rare disease, half of whom are children, according to the National Organization for Rare Disorders. Less than 5 percent of known rare diseases, of which there are more than 10,000, have approved treatments. Developing treatments for these diseases has been a challenge because of a lack of scientific tools and investment. But the science now exists to create transformative treatments, largely because of breakthroughs in gene editing and gene therapy. Getting treatments to patients, however, remains a problem, Yan said. "There's a lot of headwinds for biotech," Yan said, noting that many rare diseases often don't affect enough people to drive commercial investment in developing treatments. "That means that patients fundamentally don't have access to life-saving technologies, even though in many cases the science actually works. You can actually treat their diseases meaningfully with these technologies." The center's goal, he said, is to create treatment platforms, including disease models, manufacturing processes, safety data, and clinical programs that can be shared and replicated by others. The center will initially focus on developing precision gene-editing treatments for children with rare forms of genetic epilepsies, an effort supported by a federal grant through ARPA-H, the country's "moonshot" agency for health research. Earlier this month, the agency announced that it will spend up to $160 million to advance custom gene editing treatments for a number of rare diseases. "Our model is not to be family-funded for particular diseases," said Timothy Yu, one of the center's founding partners and an attending physician in the division of genetics and genomics at Boston Children's Hospital. "Our model is to try to raise money philanthropically to support the field, to pick the conditions that will advance the field the furthest, the quickest, and with the most confidence." "I don't want to set the expectation that people should be calling us to put their name on a waiting list," Yu added. The center is also currently in its "founding phase" and not yet accepting patient referrals or providing clinical care, according to Tuesday's announcement. Pamela Gavin, chief executive of the National Organization for Rare Disorders, said the center's work could address a "phenomenal need." "We're excited about what they're building because it addresses one of the greatest unmet needs in rare disease," Gavin said. "They're not only advancing the science of genetic medicine, they're also developing repeatable approaches that could make these therapies more scalable and ultimately more accessible for patients with very small populations." The new collaboration would help make critical resources available to patients and advocacy groups as well as pharmaceutical and biotechnology companies, said Patricia Musolino, a critical care and vascular neurologist at Mass General Brigham, who has been involved in gene therapy for 15 years. "We want to change the way we're thinking about genetic medicines," said Musolino, who also recently received a grant from ARPA-H to work on genomic medicines to treat rare genetic vascular diseases. In the future, gene therapy would ideally be treated more like surgical procedures, she said. "The surgeon doesn't have to go to the FDA to get approved for exactly what he's going to be doing to fix your gallbladder or your lungs," she said. "He's going to use the approved resources." But expanding access to treatment for rare diseases is a complex challenge, Gavin said. She noted that her organization and others around the country have been working to address similar issues. The National Organization for Rare Disorders runs a network of nearly 50 leading US medical and research institutions that are dedicated to advancing rare disease diagnosis, care, and research. "The science is advancing remarkably quickly," Gavin said. "The harder challenge now is building the systems that allow those scientific advances to reach patients safely, efficiently, and at scale. That's not something any one institution can solve alone."

The Jackson Laboratory, with the Broad Institute and partners, selected for ARPA-H THRIVE award to advance Gene Editing Platform for Pediatric Epilepsies and Rare CNS diseases. Jul 09, 2026, 11:18 ET Pediatric Epilepsies & Rare CNS Gene Editing Platform (PERC) aims to accelerate the development of precision genetic medicines for severe childhood neurologic diseases with limited or no effective treatment options. BAR HARBOR, Maine, July 9, 2026 /PRNewswire/ - The Jackson Laboratory (JAX) today announced it has been selected, with the Broad Institute and other partners, for an up to $34.5 million contract from the Advanced Research Projects Agency for Health (ARPA-H), within the U.S. Department of Health and Human Services (HHS), through its Treating Hereditary Rare Diseases with In Vivo Precision Genetic Medicines (THRIVE) initiative. The funding will support the Pediatric Epilepsies & Rare CNS (PERC) Gene Editing Platform, a bold, multi-institutional project led by the Broad Institute. PERC directly addresses the goals of ARPA-H's THRIVE initiative by advancing a platform-based approach to precision genetic medicine for rare diseases. The project will initially focus on two severe pediatric developmental and epileptic encephalopathies: alternating hemiplegia of childhood (AHC) and Dravet syndrome. The project will pursue three core objectives: advancing gene-editing approaches for AHC and Dravet syndrome; generating the evidence needed to move toward first-in-human studies; and building a reproducible, repeatable platform and regulatory pathway that can be scaled to additional rare neurogenetic diseases. THRIVE is led by ARPA-H Program Manager Daria Fedyukina, Ph.D. "PERC gives us an opportunity to stop thinking about each rare disease program as something that has to start from scratch and instead build a process that is more systematic, repeatable, and adaptable," said Cathleen (Cat) Lutz, PhD, MBA, vice president and Evnin Family Chair of the Rare Disease Translational Center (RDTC) at The Jackson Laboratory. "AHC and Dravet syndrome are devastating childhood neurologic diseases, but they reflect a much larger challenge in genetic medicine. The long-term vision is to bring together the right disease models, editing strategies, preclinical evidence, and regulatory path so that correcting a genetic variant can become a matter of precision and speed for patients and families who urgently need new options." Rare diseases collectively affect hundreds of millions of people worldwide, and children are disproportionately affected. Roughly half of known rare genetic diseases involve the central nervous system, and 90% of rare childhood disorders have major neurological effects[i]. Children with these rare CNS conditions often experience severe neurologic impairment and high mortality before the age of 5. The conventional drug development model is poorly suited to rare and ultra-rare diseases that may affect only a small number of people. For rare CNS diseases, the challenge is even more complex: potential therapies must reach the brain, demonstrate safety and efficacy in rigorous preclinical models, move through regulatory review, and be evaluated in small patient populations where traditional clinical trial models may not apply. The THRIVE award will support the collaborative efforts of The Jackson Laboratory, Broad Institute, and their partners to address a central challenge in rare disease medicine: how to turn advances in genetic diagnosis and precision genetic medicine into a scalable platform for developing, evaluating, and delivering precision genetic medicines across many diseases. PERC is designed to meet that challenge by integrating recent advances in base editing, prime editing, in vivo delivery of genetic therapies to the brain, and rare disease biology. "PERC builds on a longstanding collaboration among the Broad Institute, The Jackson Laboratory, Boston Children's Hospital, RARE Hope, and other partners that brings together the scientific, technical, clinical, and translational capabilities needed to advance the next generation of precision medicines," said Winston Yan, MD, PhD, Co-founder & Director of the Center for Therapeutic Genetics and Lead Investigator for PERC at the Broad Institute. "With support from ARPA-H, we have an opportunity to help establish new treatments for patients affected by AHC and Dravet syndrome, while also building a platform that can be extended to additional rare neurologic diseases. The combination of serving urgent patient needs today and creating a more scalable path for the future is exactly what this collaboration is meant to achieve." The Jackson Laboratory Rare Disease Translational Center The Jackson Laboratory Rare Disease Translational Center, under the leadership of Cat Lutz, will drive the project's preclinical and translational work. The Center is fully focused on empowering rare disease solutions through partnerships, innovation, and scaled preclinical pipelines that help move targeted therapies from the laboratory toward the clinic. Through RDTC, The Jackson Laboratory brings deep expertise in disease genetics, model generation, preclinical therapeutic development, and rigorous testing of potential therapies for rare diseases. JAX RDTC researchers and collaborators have conducted extensive work in AHC and Dravet syndrome, including published and ongoing research using precision genome editing in disease models. This body of work provides a critical foundation for advancing the PERC platform and evaluating whether gene-editing approaches can correct or compensate for disease-causing genetic changes in ways that support further therapeutic development. PERC: A broad coalition across science, advocacy and therapeutic development The PERC project brings together a broad team of research, clinical, patient advocacy, and therapeutic development partners across 12 institutions and organizations. The collaboration includes the Broad Institute, The Jackson Laboratory, Boston Children's Hospital, The RARE Hope Foundation, and other academic, clinical, industry, and advocacy partners working together to combine gene-editing innovation, preclinical translation, patient insight, CNS delivery technology, and clinical development expertise in a platform no single institution could build alone. Part of a broader federal push to accelerate clinical research The award comes amid a broader federal effort to strengthen U.S. global leadership in clinical research and accelerate the development of lifesaving treatments. In June, HHS announced a coordinated effort to modernize clinical research, reduce unnecessary delays, increase participation in clinical trials, and ensure that the next generation of medical breakthroughs is developed in the United States. THRIVE was cited as one of ARPA-H's major initiatives within that effort, with a focus on developing new approaches to test multiple treatments and diseases simultaneously and improving trial efficiency before patient enrollment begins. About The Jackson Laboratory The Jackson Laboratory (JAX) is an independent, nonprofit biomedical research institution with a National Cancer Institute-designated Cancer Center. JAX leverages a unique combination of research, education, and resources to achieve its bold mission: to discover precise genomic solutions for disease and empower the global biomedical community in the shared quest to improve human health. Established in Bar Harbor, Maine, in 1929, JAX is a global organization with nearly 3,000 employees worldwide and campuses and facilities in Maine, Connecticut, California, Florida, New York, and Japan. For more information, please visit www.jax.org. SOURCE The Jackson Laboratory