Globally, an estimated 350 million people are affected by a rare disease diagnosis.
Knowledge limitations persist for the majority of rare conditions due to systemic and …

Despite growing acceptance of patient registries and natural history studies to provide useful
information, the rare disease community suffers from the absence of reliable epidemiological …

We now live in a time of unprecedented opportunities to turn scientific discoveries into better
treatments for the estimated 30 million people in the US living with rare diseases. Despite …

Every year on February 28, the global community comes together to observe Rare Disease
Day, a day dedicated to raising awareness and understanding for the millions of individuals …

Fifteen years ago, DMM was founded on the idea that 'application of fundamental
discoveries from (model) organisms will accelerate our understanding, diagnosis and …

In trying to ensure relevance and usefulness for a wide readership, we instructed
contributors to use as few clinical terms as possible (other than those deemed absolutely …

Scientific advances in the understanding of the genetics and mechanisms of many rare
diseases with previously unknown etiologies are inspiring optimism in the patient, clinical …

Plain English summary Patients with rare diseases often help to develop new treatments for
their conditions. But once developed, those treatments are sometimes priced too high for …

We reflect on the worldwide research accomplishments, orphan product approvals, and the
commitments by the rare diseases community. Major collaborative efforts by the public and …

NORTH BETHESDA, MARYLAND--Rare diseases, defined in the US as those occurring in
fewer than 200,000 people in the country, collectively affect around 10% of individuals …