Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers reader

This book explores a number of uncommon diseases, including autism, Asperger’s syndrome, carpal tunnel syndrome, Huntington’s disease, systemic lupus erythe

This User’s Guide is intended to support the design, implementation, analysis, interpretation, and quality evaluation of registries created to increase unders

Rare Diseases and Orphan Drugs shows that much of what we now know about common diseases has been achieved by studying rare diseases. It proposes that future ad

The fields of rare diseases research and orphan products development continue to expand with more products in research and development status. In recent years,