Tropical and Infectious Diseases

Rare Diseases

A rare disease affects less than 1:2000 of the entire general population. There are about 8,000 known rare diseases which are present throughout a person’s life due to lack of treatment options. Rare diseases are considered to be genetic and are asymptomatic for many and appears early in the life. The rarest of the rare diseases has been diagnosed only in 1 person which is ribose-5-phosphate isomerase deficiency. The categorization of rare diseases varies geographically. A disease that is rare in one geographic location might be endemic to another region. For e.g. cystic fibrosis is endemic to Europe but rare in Asia and South East Asia. In Finland, about 40 diseases are known as Finnish heritage disease since they have much higher prevalence only in Finland.

Since there is no huge pharmacy market for rare diseases, the drugs used to treat rare diseases are known as orphan drugs.

Rare diseases include:

• Fibrodysplasia Ossificans Progressiva
• Fields’ Disease
• Hutchinson-Gilford Progeria
• Microcephaly
• Morgellons
• Paraneoplastic Pemphigus
• Polio
• Small pox
• Von Hippel-Lindau