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Dr Sheela Nampoothiri, Clinical Professor, Department of Pediatric Genetics, Amrita Institute of Medical Sciences at Kochi, said, “Many rare diseases are extremely disabling, life- threatening and challenging, both physically and emotionally. Also, it takes several years for the right diagnosis because of the rarity of the diseases and minimal research being conducted in this field. The treatment is available, but is very expensive and is not being covered by the insurance or any state or Central Government scheme.”

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