P661: Founder effect and endogamy result in the high prevalence of junctional Herlitz epidermolysis bullosa in a community from Southern India

The evolutionary studies suggest that many communities in India have a high risk of developing population-specific autosomal recessive genetic disorders due to founder events and endogamy. The next step would be to identify specific recessive diseases among various subpopulations and elucidate the underlying genes/variants responsible for them. Here we present an endogamous community (with a strong founder effect) from Southern India that has significantly higher incidents of Junctional Herlitz Epidermolysis Bullosa (JHEB), a rare genetic skin disorder, than the expected frequencies worldwide.