The Jackson Laboratory, an independent, nonprofit biomedical research institution headquartered in Bar Harbor, is partnering with the Broad Institute in Cambridge, Mass., and Boston Children’s Hospital to develop genetic medicines for rare and ultra-rare diseases.
The partners launched the nonprofit Center for Therapeutic Genetics intending to develop precision medicines, using infrastructure and repeatable practices the center will share with others.
Boston Children’s Hospital is a 491-bed center for pediatric and adolescent health care.
The Broad Institute is an independent, nonprofit research organization. It will convene scientists and others from the fields of genomics, cell biology, chemistry, engineering, neuroscience, therapeutics, artificial intelligence and machine learning, computational biology and public health.
Jackson Lab claimed revenue of $572.8 million in its most recent tax filing, according to the 2025 Mainebiz Giving Guide, which cites data from GuideStar.
Tailored medicine
Up to 400 million people worldwide live with one of approximately 8,000 rare diseases. Children are disproportionately affected, and many of the conditions are progressive, life-threatening or debilitating.
But fewer than one in 20 has an approved treatment. Traditional drug development typically takes many years and costs hundreds of millions of dollars — a model designed for diseases affecting large populations, not for rare and ultra-rare diseases that might each affect only a few people.
Recent advances in medicines can be tailored to the specific mutation that causes a given rare disease, paving the way toward a new model for treating rare diseases, according to a news release.
The medicines have been used to treat more than 200 patients so far.
Building systems
The center’s founders include Cat Lutz, Jackson Laboratory’s vice president of its Rare Disease Translational Center.
“We are at a moment in genomic medicine where, for many rare diseases, the question is no longer whether we can treat them, but whether we will build the systems to do it,” said Lutz. “CTG answers that call.”
JAX’s Rare Disease Translational Center includes more than 75 scientists working across more than 70 rare diseases.
Under Lutz’s leadership, the Rare Disease Translational Center develops shared tools, data resources and translational frameworks that can be applied across multiple diseases. That approach aligns with the Center for Therapeutic Genetics’s goal of creating a more repeatable and scalable model for developing precision genetic medicines, rather than treating each therapy as a one-off effort, a spokesperson told Mainebiz.
Early success
Spinal muscular atrophy is an example of a rare condition. In 2001, Arya Singh, at 18 months old, was diagnosed with the neuromuscular disorder, which is the leading genetic cause of death for babies and children. At the time, spinal muscular atrophy had no treatment and no cure.
Lutz developed mouse models of various strains of the disorder and identified a critical therapeutic window of opportunity for treatment. In just three years, Singh became one of the first patients in the world to receive a spinal muscular atrophy treatment through a clinical trial.
Now 25, Singh has testified before Congress about rare disease legislation spoken at rare disease conferences around the country.
Going forward, the Center for Therapeutic Genetics will develop precision medicines for those with rare diseases like Singh’s.
In another example, the University of Pennsylvania and Children’s Hospital of Philadelphia treated an infant with a severe metabolic disorder, using a gene-editing medicine built for that child’s specific mutation.
$34.5M award
The Center for Therapeutic Genetics will have a physical space at the Broad Institute, but work related to the center is spread across the three founding institutions.
The partnership is designed so that each institution contributes complementary expertise: JAX contributes its strengths in genetics, disease biology, translational science and therapeutic evaluation to help move promising therapies toward the clinic, the Broad Institute brings leadership in gene-editing technologies and Boston Children’s Hospital provides clinical and patient care expertise.
Other founders include David Liu at the Broad Institute, Timothy Yu and Wendy Chung at Boston Children’s Hospital and Winston Yan, the center’s director.
The center’s programs are supported by a recent award of up to $34.5 million from the Treating Hereditary Rare Diseases with In Vivo Precision Genetic Medicines (THRIVE), a program of the U.S. Department of Health and Human Services’s Advanced Research Projects Agency for Health (ARPA-H).
Still in its founding phase, the center is not yet accepting patient referrals or providing clinical care.
The center’s strategy is to develop tools, disease models, manufacturing processes, safety data and clinical protocols for one program that can be shared across multiple disease programs.
The center aims to expand by welcoming additional institutions and partners as it develops. Over time, the goal is to create scientific and regulatory infrastructure that makes genetic medicine faster, safer, less costly and more accessible to patients.
Bringing treatments to patients will require regulatory and reimbursement frameworks suited to medicines that are made for one or a few patients.
