Indian genetic disease database

Abstract

Indians, representing about one-sixth of the world population, consist of several thousands of endogamous groups with strong potential for excess of recessive diseases. However, no database is available on Indian population with comprehensive information on the diseases common in the country. To address this issue, we present Indian Genetic Disease Database (IGDD) release 1.0 (http://www.igdd.iicb.res.in)—an integrated and curated repository of growing number of mutation data on common genetic diseases afflicting the Indian populations. Currently the database covers 52 diseases with information on 5760 individuals carrying the mutant alleles of causal genes. Information on locus heterogeneity, type of mutation, clinical and biochemical data, geographical location and common mutations are furnished based on published literature. The database is currently designed to work best with Internet Explorer 8 (optimal resolution 1440 × 900) and it can be searched based on disease of interest, causal gene, type of mutation and geographical location of the patients or carriers. Provisions have been made for deposition of new data and logistics for regular updation of the database. The IGDD web portal, planned to be made freely available, contains user-friendly interfaces and is expected to be highly useful to the geneticists, clinicians, biologists and patient support groups of various genetic diseases.

Movement disorders: Indian scenario: A clinico-genetic review

“…In addition to this review, Indian Genetic Disease Database release 1.0 (http: www.igdd.iicb.res.in) also covers 52 diseases with information on 5760 individuals carrying the mutant alleles of causal genes. [44] Parkinson's Disease Eighteen genetic loci with 13 underlying genes have been identified till date for PD, however, only 6 genes [Alpha-synuclein (SNCA), Leucine rich repeat kinase-2 (LRRK2), Parkin, PTEN induced putative kinase 1 (PINK1), DJ-1, ATPase type 13A2 (ATP13A2)] could be conclusively proved to be causal towards the disease. [45] In India, candidate gene studies have been performed on SNCA, [46,47] Parkin, [48][49][50][51][52] PINK1, [53] DJ-1, [54,55] and LRRK2 [47,[56][57][58][59] only [ In India studies to understand the molecular basis of PD is rapidly getting pace.…”

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

“…Religious restrictions compounded by the geographical isolation of some Indian habitats due to the country's diverse topography have contributed significantly to a relatively higher rate of inbreeding (population-inbreeding coefficient of India = 0.00-0.20) and, thus, served as barriers to random mating and free gene flow leading to the distinct gene pool of the Indian sub-populations (Bittles et al, 2002). In parallel, there is also a relatively higher burden of specific diseases (Bittles, 2002a;Mcelreavey et al, 2005;Pradhan et al, 2011;Dixit et al, 2015). A list of some of the disease-associated founder variations determined from the Indian population has been indicated in Table 2 Table 3).…”

“…Despite several global initiatives to address the RDs-associated challenges, a lot of work needs to be carried out in order to deal with this ignored health sector. In a developing country like India, the RDrelated research has been hampered by limited advanced clinical resources and far-to-approach, sporadically localized genetic services centers (Pradhan et al, 2011;Aggarwal and Phadke, 2015;Kasthuri, 2018).…”

“…India's primitive migration history and highly diverse population architecture which is epitomized by socio-cultural, geographical, linguistic, and religious isolation have been suggested as the main contributor to the country's genetic diversity (Basu et al, 2016). However, biological isolation of several endogamous population groups might have resulted in a relatively higher prevalence of genetic disorders in India (Pradhan et al, 2011). One of India's highly diverse and conglomeration of various inbred population groups, the population of Jammu and Kashmir (J&K) region, is expected to be an unexplored reservoir of genetic disorders.…”

Perspectives on Translational Genomics and Public Health in India

“…Recently, a few databases on Indian genome variation and genetic disorders have been made available to the public. Among them, the Indian Genetic Disease Database (IGDD; http://www.igdd.iicb.res.in), which provides a curated repository of mutation data reporting over 50 different genetic diseases in the Indian populations [58]. …”