A rare disease may affect relatively few people, but more than 7,000 such conditions together affect hundreds of millions worldwide. In this program, Researcher Stephanie Cherqui, Ph.D., explains why studying them matters not only to families facing a devastating diagnosis, but also to the future of medicine. Her work on cystinosis uses a patient’s own blood-forming stem cells to carry a working copy of a gene throughout the body. One early trial participant returned to his studies and work and could finally go days without thinking about the disease.
The same approach may help address other inherited disorders and even more common conditions. Cherqui describes research on diseases that damage the heart, brain, muscles and nervous system. Lisa Kadyk, Ph.D., of the California Institute for Regenerative Medicine, explains how shared treatment platforms could make this work faster and less expensive. Rather than building every therapy from scratch, researchers may be able to adapt the same delivery method for several related genetic changes.
Pediatric brain tumor specialist Leo D. Wang, M.D., Ph.D., describes how engineered immune cells are being tested against cancers that have resisted treatment for decades. Some children in an early trial experienced tumor shrinkage and meaningful improvements in daily life. The tumors often began growing again after eight to 12 weeks, however, and researchers are now studying how to help the cells remain active longer.
Patient advocate Daphne Graskewicz-Prado grounds these advances in her family’s experience. After months of delays and searching, her daughter Harlow received a personalized treatment for an extremely rare disorder affecting the brain’s white matter. Harlow has since gained new abilities, including standing, walking with support and riding a bike. Her story shows why progress depends on scientists, clinicians, funders and families working together to turn limited options into new possibilities.
Watch: Gene Therapy Turns Rare Disease Research into Care
Explore more research, patient stories and emerging treatments in the MIND — Medicine Informing Novel Discoveries series.