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

In our etiologic research, we epidemiologists need to leave behind the concepts of ‘cohort’ study and ‘case–control’ study and adopt that of the etiol

Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions i

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

NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are