Rare Disease Innovation at the FDA—Opportunities for Implementation Carolyn K. Shore, PhD1; Tequam L. Worku, MPH1; Jeffrey Kahn, PhD, MPH2 Author Affiliations JAMA. 2024;332(23):1973-1974. doi:10.1001/jama.2024.20358 Full Text Over the past 4 decades since the Orphan Drug Act was...
The theme of the conference is"Pioneering Innovation for Rare Diseases: Bridging Science, Hope, and Care." A rare disease, as defined by theWorld Health Organization, is a condition that affects one in every 1000 people, but in today's context, these rare diseases are not as uncommon as th...
Rare Disease Cures Accelerator - Data Analysis Platform (RDCA-DAP), Tucson, USA.Alexandre.BetourneRare Disease Cures Accelerator - Data Analysis Platform (RDCA-DAP), Tucson, USA.Amanda.BorensData Collaboration Center (DCC), Tucson, USA.Vanessa.Boulanger...
Leveraging AI to Advance Rare Disease Patient Identification and Commercialization Today we have access to more data from more sources than we could ever dream possible. The need for data is elevated as diagnosis becomes a race against time and the pipeline for innovative new therapies continues to...
How has rare disease care changed over the last few years? And what might we expect from the next five? We attended the Rare Disease Day Virtual Parliamentary Event to find out. The rare disease community has a golden opportunity to transform the way car
Public-Private Partnerships (PPPs) represent a promising approach to enhance innovation and accelerate therapy development. Politically, there is a growing recognition of the need for stronger partnerships to tackle the challenges in rare disease research and therapy development. Results: Public-private ...
Work Package 20 focuses on the validation, use and development of innovative methodologies for rare disease clinical trials. This paper reports on the outcomes of a retreat held in April 2023, where areas for innovation and educational needs in rare disease clinical trials were discussed in multi-...
Exploring the molecular basis of disease severity in rare disease scenarios is a challenging task provided the limitations on data availability. Causative genes have been described for Congenital Myasthenic Syndromes (CMS), a group of diverse minority ne
The use of animal models is key to better understanding the role played by genetic variants in human disease, sometimes being vital in confirming the causal role of a gene/variant in a disease phenotype. Such models, notably using the mouse, also act as important tools for assessing the feasi...
As more rare disease therapies enter the clinic, patients, caregivers, and the advocacy community have a unique opportunity to be a catalyst for innovation. What patients tell their physician can aid in their diagnosis, and can be seen and heard by pharmaceutical manufacturers, researchers, payers...