• Target Product Profiles: How genetic stratification shapes rare disease drug development

    With the advancement of precision medicine, genetic stratification – dividing patients into subgroups based on their specific mutations – is a key starting point in the drug development lifecycle for rare genetic diseases. 

    Incorporating a clear stratification plan is a key part of developing an effective Target Product Profile (TPP), which serves as a blueprint for product development by defining what “success” looks like early on, and aligning clinical, regulatory, and commercial strategies to meet patient needs, and regulatory and market requirements.

  • Rare Disease Day 2025: Reflecting on a year of progress and the challenges that lie ahead  

    Rare Disease Day presents a time to reflect on the progress made in understanding and addressing the unique challenges that rare diseases bring – and the hurdles that remain. Over the past year, several significant developments have shaped the rare disease landscape, from new regulatory policies and technological advancements to major advocacy efforts.  

  • The role of precision epidemiology in R&D decision-making: Spotlight on rare genetic diseases

    Rare genetic diseases are challenging to treat due to their complexity, the unique nature of each condition, and the – by definition – small numbers of patients affected by each one.  Encouragingly for the rare disease community, the field is moving rapidly with a wide variety of innovative therapies being developed, including gene therapy involving […]