From Serendipity to Scalability in Rare Disease Patient Collaborations.

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.