Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.

ABSTRACT: Rare diseases (RDs) are the clinical conditions affecting a few percentage of individuals in a general population compared to other diseases. Limited clinical information and a lack of reliable epidemiological data make their timely diagnosis and therapeutic management difficult. Emerging Next-Generation DNA Sequencing technologies have enhanced our horizons on patho-physiological understanding of many of the RDs and ushered us into an era of diagnostic and therapeutic research related to this ignored health challenge. Unfortunately, relevant research is meager in developing countries which lack a reliable estimate of the exact burden of most of the RDs. India is to be considered as the "Pandora's Box of genetic disorders." Owing to its huge population heterogeneity and high inbreeding or

SUBMITTER: Angural A 

PROVIDER: S-EPMC7203485 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature