Genetic diseases, though are individually rare, cumulatively affect a large number of individuals, estimated to affect over 70 million Indians. In majority of the cases, an appropriate diagnosis is not arrived at, due to lack of general awareness on genetic diseases, lack of access and high-cost of appropriate genetic diagnostic services. It is estimated that an average patient with rare disease has to go through multiple healthcare visits and diagnostic tests and approximately 7 years to arrive at a precise diagnosis
CSIR-Institute of Genomics and Integrative Biology (IGIB)
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