The Genomics for Understanding Rare Disease India International Alliance Network (GUaRDIAN) project originated primarily as a research collaboration involving basic scientists and clinicians who got together to explore potential translational applications of genomic technologies. We have been motivated by the fact that currently a large number of diseases/traits have been shown to be associated with genetic variations in human. In this context India, which is a unique kettle of human genetic pool with high birth rate, restricted marriage practices including consanguinity and a poor availability of antenatal diagnostics is disposed to high frequencies of disease genotypes (Bittles et al., 2010). It is estimated that almost 64 of every 1000 live births in India carry a birth defect (Christianson et al., 2005); and 1 out of every 20 children are known to suffer from one or other form of genetic diseases in urban India (Ghosh and Rao 2005). With approximately 15.53 million babies born every year in India, the estimated fraction of Indian population suffering from genetic disorders assumes gigantic proportions.

In this project, we hope to bring together the rich expertise of clinicans and basic science researchers towards both understanding novel genetic variations and their phenotypic correlates and also potentially suing this information and knowledge for translational applications.