Key Points
Rare disease is a disease that affects a small percentage of the population but most rare diseases are genetic in origin and are present throughout a persons life even if symptoms do not immediately appear but it usually appears early in life and about 30% of children with rare diseases may die before reaching their 5th birthdays..
The term rare diseases or rare disorders" was referred to those diseases or disorders with a prevalence of 1 or less, per 1000 population by World Health Organization (WHO) and there is no universally accepted definition of rare diseases but in India, we generally accept that a disease prevalence of less than 100 patients per 100,000 people is categorized as a rare disease and there are about 6000-8000 known rare diseases reported in the medical literature...
As per National Consortium for Research and Development on Therapeutic for Rare Diseases, approximately 450 rare diseases have been identified and reported in India however, 80% of all rare disease patients are affected by approximately 350 rare diseases..
The most common rare diseases that have clinically actionable treatment regimen include Haemophilia, Thalassemia, Sickle-cell Anaemia and Primary Immuno Deficiency in children, auto-immune diseases, Lysosomal storage disorders such as Pompe disease, Hirschsprung disease, Gauchers disease, Cystic Fibrosis, Hemangiomas and certain forms of muscular dystrophies...
Bringing his expertise to the same, Dr Prashanth Bagali said, Rare diseases are a serious public health concern in India, with an estimated burden of about 80 to 96 million cases reported annually..
