The Indian Council of Medical Research (ICMR) has launched The Indian Rare Disease Registry for determining the exact number of patients, age of onset of symptoms and diagnosis, course of disease and natural history of these diseases in the country.
A disease is defined rare in India when it affects only 1 in 2,500 people.
The diseases to be covered under this Registry are Lysosomal Storage Diseases, Inborn Errors of Metabolism, Skeletal Dysplasias, Hematological Disorders, Neuromuscular Disorders, Primary Immune Deficiency.
The Registry will monitor prevalence, incidence and natural history of disease over a period of time that will help in guiding policy decisions. It will support research that aim to improve the understanding of distribution and determination of rare diseases as well as facilitate access to innovations in genetics, molecular and computational biology, and other technological advances for patients suffering with rare diseases.
Importantly, it will generate data on rare disorders in India which is woefully lacking at the moment.
Rough estimates suggest that more than 70 million people in India suffer from a range of rare diseases, manifesting in childhood, and which remain with them throughout their lives. However, new diseases are being identified during research and it is important to maintain data on these.
To begin with, only a few conditions will be taken up for consideration in the Registry, launched by ICMR in collaboration with All India Institute of Medical Sciences (AIIMS), and Jawaharlal Nehru University (JNU). Initially, the Registry will pick up data from hospitals and doctors and will subsequently reach out to the community. The focus will be on identifying diseases which have treatment available in India.
The Indian Rett Syndrome Foundation, Indian Society for Primary Immune Deficiency, Society for Hemophilia Care, India, Organisation of Rare Disorder India, Metabolic errors and Rare Disease Organization of India, Hemophilia Federation of India, and Fragile X Society India will contribute in creating this Registry.