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India finally forms registry for rare diseases

India now finally has a rare disease registry. To get a better estimate of the number of patients suffering from rare diseases, the Indian Council of Medical Research (ICMR) set up the registry on April 28.

The registry will ascertain the number of patients suffering from rare diseases, and formulate policies on resources, funding and treatment.

“A disease or a disorder is defined as rare in India when it affects less than one in 2,500 individuals. The registry intends to cover the spectrum of rare and ultra-rare disorders. However, initially it will only gather data on conditions for which an established treatment process is available,” said Dr Soumya Swaminathan, Director General, ICMR, and Secretary, Department of Health Research, Union Health Ministry.

“This registry will initially rely on data from hospitals and physicians. The data will also help with research and clinical trials,” said Dr Swaminathan.

According to ICMR officials, the registry will help determine the “precise number of patients, age of onset of symptoms, age of diagnosis, the course of the disease, etc.”

ICMR has also contacted patient groups managed by organisations such as Indian RETT Syndrome Foundation, Indian Society for Primary Immune Deficiency, Society for Hemophilia Care India, Organisation of Rare Disorders India, Lysosomal Storage Disorder Support Society, Metabolic Errors and Rare Disease Organisation of India, Hemophilia Federation of India, and The Fragile X Society India.

“Awareness about rare diseases is considerably low in India. More awareness is needed among the medical fraternity, especially pediatricians and gynecologists, and among parents and couples planning to have a baby. This can help detect Fragile X syndrome and other rare disorders among children early on,” said Shalini Kedia, Founding Chairperson, The Fragile X Society.

More than 70 million people in India suffer from various rare diseases that manifest in childhood, and remain with them throughout their lives.


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