Shining a light on rare diseases
Supporting awareness, diagnosis, and treatment for those living with rare conditions
Understanding Rare Diseases
Rare diseases, also known as orphan diseases, are conditions that affect a small portion of the population. In many countries, a disease is classified as rare when it affects fewer than 1 in 2,000 people. Yet, with over 7,000 identified rare diseases, more than 300 million people are impacted globally—about 1 in 10 people.
A Common Rare Disease: Cystic Fibrosis
Cystic fibrosis is a genetic disorder affecting the lungs and digestive system. It is caused by a faulty CFTR gene and is most common in people of Northern European descent. It affects approximately 70,000 to 100,000 individuals worldwide and requires lifelong treatment. Thanks to new therapies, some patients are now experiencing improved outcomes.
One of the Rarest Known: RPI Deficiency
Ribose-5-phosphate isomerase deficiency (RPI deficiency) is an extremely rare metabolic disorder caused by a mutation in the RPIA gene. With fewer than 5 documented cases worldwide, it disrupts energy production in cells and causes severe neurological symptoms. There is no cure, and very little is known due to its extreme rarity.
Key Statistics
- 🧬 Over 300 million people live with a rare disease globally.
- 🧬 Around 72% of rare diseases are genetic in origin.
- 🧒 Approximately 70% begin in childhood.
- 💊 95% of rare diseases have no FDA-approved treatment.