From Serendipity to Scalability in Rare Disease Patient Collaborations

Area of Science:

• Rare disease research
• Intellectual and developmental disabilities
• Patient advocacy and engagement

Background:

• Increasing rare disease diagnoses necessitate scalable solutions.
• Existing research and clinical infrastructure often insufficient for rare diseases.
• Patient communities are vital partners in rare disease research.

Purpose of the Study:

• To present models of successful collaboration in rare disease research.
• To highlight the generation of resources through partnerships.
• To demonstrate how collaboration accelerates treatment development.

Main Methods:

• Drawing upon experiences in rare intellectual and developmental disability research, advocacy, and treatment.
• Presenting two case examples of successful partnerships.
• Focusing on collaborations at Washington University in St. Louis.

Main Results:

• Successful partnerships between patient groups, clinicians, and investigators were established.
• Invaluable resources were generated to accelerate toward treatments.
• Established models for building research and clinical infrastructure for rare diseases.

Conclusions:

• Collaboration between patient groups, clinicians, and investigators is crucial for rare disease research.
• These partnerships provide effective models for developing research and clinical infrastructure.
• Successful collaborations accelerate the development of treatments for rare diseases.