Rare diseases, which affect over 350 million people worldwide and frequently go
undiagnosed or misdiagnosed for years, suffer from sparse and dispersed medical …

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 …

Rare disease research has reached a tipping point, with the confluence of scientific and
technologic developments that if appropriately harnessed, could lead to key breakthroughs …

Rare diseases present unique challenges to researchers due to the global distribution of
patients, complexity and low prevalence of each disease, and limited availability of data …

Extensive public-private partnerships, including the National Institutes of Health (NIH) and
the rare diseases community, which is seeing a renewed industry interest in smaller niche …

The International Rare Diseases Research Consortium (IRDiRC) was founded in 2011 with
the conviction that rare diseases research had reached a critical juncture. Proof of principle …

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 …

➣ ALTHOUGH DEFINITIONS VARY BY JURISDICTION, DISEASES that affect approximately
1 in 2000 people are considered rare. 1 Canada is one of only a few developed countries …

Rare disease registries have now been recognized as a global priority for progress both in
monitoring and documenting the natural course, and preventing and treating rare diseases …

With one in ten suffering from one of 10,000 rare diseases, precision medicine opens a path
toward identifying therapies for rare patients. Conversely, it is rare patients—through their …