World Orphan Drug Congress USA 2016
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[Whitepaper] Accelerating Rare Disease and Orphan Drug Development: Opportunities for Biomarkers, Diagnostics & Patient Engagement

Rare diseases affect more than 350 million people worldwide but patients often face limited options for approved therapies


As a result, many patients have joined advocacy groups first and foremost to connect with others struggling with their disease, but also to promote research, unite multiple stakeholders and stimulate new possibilities in the therapeutic pipeline. Research and development efforts are starting to follow suit by increasingly incorporating patients’ needs and examining potential outcomes.


Addressing clinical challenges

With government-driven financial incentives, advances in genomic technology to identify promising targets for drug development, increasingly organized patient communities, and above average regulatory approval rates, drug developers are motivated to address rare diseases. While these trends are promising for patients with urgent unmet medical needs, orphan drug development still faces many challenges. The very nature of rare disease places pressure on identifying and accessing a sufficient number of patients for clinical trials.


Given that 80% of rare diseases are genetically defined, patient registries and databases with genetic information can help ease the burden of patient recruitment. Patient advocacy groups further expand the source of potential participants with strong interest in advancing rare disease studies.

Whitepaper prepared by Leone Atkinson, MD, PHD

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