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Rare Diseases Information Toolkit

Rare Disease Toolkit for patients and families, providers, and students to learn more about the barriers faced by patients with rare diseases. This toolkit will provide information and resources for patients with rare diseases to help them navigate their

Find Help Getting a Diagnosis

Patients with rare diseases experience a delay in diagnosis or can go undiagnosed.  Use these resources to find help getting a diagnosis.

Undiagnosed / Syndromes without a Name

Genetic Testing

Genes

Genetic Counselors Directories