Abstract
SummaryRare diseases, affecting millions globally, pose a significant healthcare burden despite impacting a small population. While approximately 70% of all rare diseases are are genetic and often begin in childhood, diagnosis remains slow and only 5% have approved treatments. The UN emphasizes improved access to primary care for these patients and their families. Whole-genome sequencing (WGS) and next-generation sequencing (NGS) offer hope for earlier and more accurate diagnoses, potentially leading to preventative measures and targeted therapies. This study explores the therapeutic landscape for rare diseases, analyzing drugs in development and those already approved by the European Medicines Agency (EMA). We differentiate between orphan drugs with market exclusivity and repurposed existing drugs, both crucial for patients. By analyzing market size, segmentation, and publicly available data, this comprehensive study aims to pave the way for improved treatments and a brighter future for rare disease patients.Funding:This work received no external funding. External agencies or companies had no role in the idea and study design, model execution and evaluation, and drafting of figures and manuscript.
Publisher
Cold Spring Harbor Laboratory
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