From Serendipity to Scalability in Rare Disease Patient Collaborations

Abstract

As the rate of diagnosis for rare disease increases, so does the need to develop scalable solutions to address patient community needs. Drawing upon our experiences in rare intellectual and developmental disability research, advocacy, and treatment, we present two examples of how collaboration between patient groups, clinicians, and investigators at Washington University in St. Louis have generated invaluable resources to accelerate toward treatments. These successful partnerships serve as models for building research and clinical infrastructure for rare diseases.

Figure 1

Contributions among rare disease partners toward shared objectives. Each stakeholder can provide valuable resources, information, and support to recipient partners (indicated by colored stars) in the rare disease collaborative network.

Figure 2

The TBRS and Rett syndrome patient communities engaging with researchers and clinicians. Left, Aevary Kiernan (center) and Ayden Isaacs (right) present on their experience with TBRS at the TBRS Community Summit. Right, Ellie McCool (center) is seen by Robin Ryther, MD, PhD, (right) in the Rett Spectrum Clinic at St. Louis Children’s Hospital. (Photos courtesy of TBRS Community and St. Louis Children’s Hospital).