THERE ARE APPROXIMATELY 7,000 known rare diseases, often referred to as ‘orphan diseases’, affecting around 4 to 6 percent of the world’s population, that is nearly over 400 million people of the 8.2 billion people in the world. 75 percent of rare disease patients are children. In the United States (‘USA’), a disease is classified as ‘rare’ if it affects less than 200,000 individuals. In the European Union (‘EU’), they are defined as affecting less than 1 in 2,000 people.
Because rarity is defined proportionally, even a small percentage translates, in a country of India’s size, into hundreds of thousands of affected individuals. Merely because they represent a small percentage does not mean their concerns and health can be ignored.
Why rare disease drugs remain out of reach
Rare diseases include Hutchinson-Gilford Progeria Syndrome, a genetic disorder causing rapid aging in children; and Spinal Muscular Atrophy, caused by a mutation in the SMN1 gene that results in insufficient production of the Survival Motor Neuron protein. The deficiency progressively weakens the muscles of the spine, impairing posture and breathing, and is ultimately fatal.
An estimated 3,112 infants with SMA are born in India every year. A medical genetics clinic covering Uttar Pradesh (home to 16.5% of India's population as per the last census) and neighbouring states found an SMA carrier frequency of 1:38 among individuals with no prior family history of the disease, a finding with significant implications for policy.
