Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

ABSTRACT:

Background

Rare disorders comprise of ~ 7500 different conditions affecting multiple systems. Diagnosis of rare diseases is complex due to dearth of specialized medical professionals, testing labs and limited therapeutic options. There is scarcity of data on the prevalence of rare diseases in different populations. India being home to a large population comprising of 4600 population groups, of which several thousand are endogamous, is likely to have a high burden of rare diseases. The present study provides a retrospective overview of a cohort of patients with rare genetic diseases identified at a tertiary genetic test centre in India.

Results

Overall, 3294 patients with 305 rare diseases were identified in the present study cohort. These were categorized into 14 disease gro

SUBMITTER: Sheth J 

PROVIDER: S-EPMC11323464 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature