Genomics of Rare Genetic Diseases in India
Rare genetic diseases are becoming a public health concern in India because a large population size of close to a billion people would essentially translate to a huge disease burden for even the rarest of the rare diseases. Genomics-based approaches have been demonstrated to accelerate the diagnosis of rare genetic diseases and reduce the socio-economic burden. The Genomics for Understanding Rare Diseases: India Alliance Network (GUaRDIAN) stands for providing genomic solutions for rare diseases in India.

Genetic studies have shown that there are four distinct ancestral groups in mainland India, and a separate ancestry in the Andaman and Nicobar islands. The genetic diversity is well reflected in the mitochondrial DNA (mtDNA), Y chromosomes, and candidate genes/markers, which have provided a fair understanding of the relatedness and divergence of specific communities or tribes of India.

The Uttar Pradesh state government had taken the commendable initiative in the year 2009 by providing anti-hemophilic factors (AHF) free of cost at various centers in the state [106], while the Maharashtra state government has provided clotting factor concentrates (CFC) to the poor sections and emergency cases since 2012.

Due to the high prevalence of recessive alleles owing to endogamous practices, rare diseases form a significant burden in India. Genomics can greatly aid in addressing rare disease burden by faster and more accurate diagnoses. The Genomics for Understanding Rare Diseases: India Alliance Network (GUaRDIAN) provides a template for a nation-wide collaborative platform that uses the power of genomics to dissect the rare disease conundrum.
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