Genomics of rare genetic diseases-experiences from India.

ABSTRACT: Home to a culturally heterogeneous population, India is also a melting pot of genetic diversity. The population architecture characterized by multiple endogamous groups with specific marriage patterns, including the widely prevalent practice of consanguinity, not only makes the Indian population distinct from rest of the world but also provides a unique advantage and niche to understand genetic diseases. Centuries of genetic isolation of population groups have amplified the founder effects, contributing to high prevalence of recessive alleles, which translates into genetic diseases, including 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 di

SUBMITTER: GUaRDIAN Consortium 

PROVIDER: S-EPMC6760067 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature