Despite a difficult financing environment, the rare disease sector made significant advances with a sharp increase in the approval of new medicines, which included the first CRISPR Cas9 gene editing therapy for sickle cell disease, the first gene therapies for hemophilia A and Duchenne muscular dystrophy, and the first redosable gene therapy for dystrophic epidermolysis bullosa. The pace of innovation is accelerating and our ability to diagnose and treat rare diseases continues to improve. With the application of artificial intelligence, new sequencing technologies, and an array of evolving genetic medicines, the power to change outcomes for people with rare diseases continues to grow. Next-generation patient advocates stand at the center of this activity and are driving new ways to accelerate the diagnosis of rare diseases and the development of therapies to treat them as outlined in the 2024 NEXT Report.
Topics covered in the NEXT Report include:
- The need to think differently about the challenges for rare, ultra-rare, and hyper-rare conditions
- The promise and challenges of emerging gene-editing and other genomic medicines
- How changing sequencing technologies are improving diagnostic success
- How non-profit and for-profit entities are crafting business models to enable sustainable development of N-of-1 therapies
- The need for regulators to exercise their flexibility to address ultra-rare therapies
- How drug developers or working to rethink payment models for one-time, curative therapies
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