Characteristics of Rare Diseases

  • Rare diseases are often chronic, progressive,degenerative, and often life-threatening;
  • Rare diseases are disabling: the quality of life of patients is often compromised by the lack or loss of autonomy;
  • High level of pain and suffering for the patient and his/her family;
  • No existing effective cure;
  • There are between 6,000 and 8,000 rare diseases;
  • 75% of rare diseases affect children;
  • 30% of rare disease patients die before the age of 5;
  • 80% of rare diseases have identified genetic origins;
  • Other rare diseases are the result of infections (bacterial or viral), allergies and environment.