Despite over 7000 known rare diseases, reliable information regarding their prevalence,
history and treatment options is scarce. To address this gap, patients, advocates, and …

Background: Patient advocacy groups (PAGs) serve a vital role for rare disease patients and
families by providing educational resources, support, and a sense of community. Motivated …

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

Rare diseases are those diseases that are not seen frequently in a population. There are
about 7000 rare diseases that have been identified worldwide, and 80% of them are caused …

At their core, patient organizations (also commonly called patient advocacy groups) are
support networks for individuals and families affected by specific diseases and disorders …

Rare diseases remain a formidable public health challenge. The key to unlocking
breakthroughs in diagnosis and treatment is fostering dynamic international partnerships …

Background Patients with rare diseases experience the health care system differently than
patients with more common conditions. They can therefore provide important perspectives …

There is great value in understanding the patient perspective in rare disease diagnosis and
research, and in partnering actively with patients and their families throughout the process …

Members of the rare disease community have devoted significant financial and personnel
resources to address the numerous issues surrounding rare diseases. The past has been …

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 …