Work

From Serendipity to Scalability in Rare Disease Patient Collaborations.

Year: 2025

Type: article

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.

Source: PubMed

Authors: Kerry Grens, Judith L Weisenberg, Robin C Ryther, Harrison W Gabel

Institution: Washington University in St. Louis

Language: English

Topic: Mental Health and Patient Involvement

Subfield: General Health Professions

Field: Health Professions

Domain: Health Sciences

SDGs: Partnerships for the goals, Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Institute of Mental Health

Awards: Exploring Feasibility of Gene-Targeted Therapeutics for Epigenetic Neurodevelopmental Disorders, MECHANISMS OF EPIGENETIC REGULATION IN NERVOUS SYSTEM DEVELOPMENT