Rare disease

Nearly one in 10 people globally are affected by a rare genetic disease. Patients with rare diseases are often severely ill, but they face limited treatment options. The Broad is committed to leveraging the latest advances in biomedicine to rapidly accelerate the discovery and development of treatments and cures for rare diseases. To fulfill this mission, we bring together state-of-the-art technologies, scientific expertise, clinical experience, the biopharma and regulatory community, and patients and advocacy groups.

These efforts include the Center for Therapeutic Genetics, a collaboration between the Broad, The Jackson Laboratory, and Boston Children’s Hospital. While new genetic medicines have shown incredible potential in treating genetic disorders, the vast majority of rare disease patients do not have access to them. That’s because for each disease, there are too few patients to justify the high cost of commercial drug development. In order to overcome this challenge, the Center for Therapeutic Genetics aims to democratize genetic treatments for rare disease patients by derisking, making them scalable, helping to streamline the regulatory process, and sharing protocols.

The Ladders to Cure (L2C) Scientific Accelerator at the Broad also convenes scientists, clinicians, and patient advocates to catalyze progress across the rare disease research ecosystem and accelerate advances leading to treatments and cures. L2C focuses on uncovering “nodal biology”—common biological pathways across diseases—as well as technological innovations that speed biological investigations and therapeutic development.

The Broad is also advancing treatments for specific rare diseases such as Friedreich's ataxia, a rare inherited neurodegenerative disorder. The Friedreich's Ataxia Accelerator (FAA) brings together researchers across the Broad to develop new therapeutic strategies by leveraging expertise in genomics, genome editing, drug discovery, and disease biology. In addition to accelerating the search for treatments, the Accelerator is deepening our understanding of the biological mechanisms that drive the disease.