Rare Diseases, Diagnosis, Therapies, and Hope
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This is a free e-book on rare diseases written in a way that is easily accessible for all audiences.
The book includes:
Ten case studies about breakthrough discoveries for rare disease patients.
Many interviews with top doctors, researchers, and genomics experts.
A Rare Disease Parent’s Toolkit with recommendations from parents and others.
Demystifying Genomics, which explains in simple terms the latest developments in rare disease treatment and research, including information on how the sequencing process works.