It’s estimated that nearly 400 million people across the globe live with a rare disease. Though many of these diseases are progressive, debilitating, and even life-threatening, less than five percent of them have an effective and approved treatment.
Nearly half of the rare disease patients are children and it’s estimated that 30% of children with a rare disease will not survive past their fifth birthday. Though there have been some major successes in developing and providing treatment for some children with rare disease, including Baby KJ Muldoon—who was the first patient to receive a personalized CRISPR gene editing therapy—N = 1 therapies are challenging on many levels, and these stories cannot be the functional standard practice for treating patients with rare disease.
“What if treating genetic disease could be as routine as life-saving surgery?” ask David Liu, PhD, core institute member at the Broad Institute, and Winston Yan, MD, PhD, physician-scientist at the Broad institute and director of the new Center for Therapeutic Genetics (CTG) which is working to answer this very question.
“Scaling and sustaining treatment for ultra-rare disease is a hard problem that many scientists, clinicians, patients, and drug developers are working on,” says Yan.
Along with Yan and Lui, the CTG is founded by leaders in genetic medicine, including Cat Lutz, PhD, vice president, of The Jackson Laboratory’s rare disease translational center, Timothy Yu, MD, PhD, physician and researcher at Boston Children’s Hospital, and Wendy Chung, MD, PhD, chief of pediatrics at Boston Children’s Hospital. Their aim is simple: to develop genetic medicines that can treat patients with rare diseases in a scalable and repeatable way, while sharing the methods, data, and training learned through this practice.
“What we have here is a group of leaders who believe that by approaching genetic medicines not as products, but as a standardized clinical procedure, and by sharing what we learn openly across institutions, we can make precision genetic medicine faster, safer, less expensive, and more accessible to patients and families in need,” says Yan.
The impetus behind developing the CTG is centered on patient care and utilizing ever growing biotechnology.
“We receive messages every week from parents asking for help: Can we do for their child what has been done for other children who have received treatments?” shares Liu. “The honest answer today is usually ‘not yet,’ often not because the science doesn’t exist, but because we don’t yet have the infrastructure to bring these treatments to many patients. CTG is our commitment to closing that gap, so that eventually every family who needs this kind of treatment has a path forward.”
Though the center is in its founding phase and not yet working with patients, the programs are anticipated to include the development of precision gene-editing treatments for multiple diseases, including rare forms of genetic epilepsies, supported by a recent $34.5 million award from the ARPA-H THRIVE program.
“What we are building together is scalable treatment, something our institutions will learn to do well and repeat again and again. At Boston Children’s, we see children every day for whom a diagnosis is only the beginning of a much longer journey,” says Chung.
By utilizing technology, like CRISPR or base editing or prime editing, the goal is to develop a scalable system, not just one-off treatments. The founders of CTG aim to develop programmable and modular medicines that can be customized to the patient needs, not unlike the tailored pre-operational plans that are developed for each patient undergoing a standard practice surgery.
“We used to see precisely tailored therapies for children with genetic diseases as remarkable exceptions. CTG is built on the conviction that they don’t have to be—that the methods we develop for one rare disease will carry to the next, and eventually to the many,” says Yu.
Lutz concurs, adding, “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.”
Standardizing precision medical care using programmable genetic medicines for treating rare diseases is only the beginning. Best practices and processes for addressing rare disease can translate to treating more widespread diseases as well.
“CTG exists to close a major gap in care and ensure that what we learn from one disease accelerates treatment for the next,” concludes Chung.
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