Inherited disorders are a serious threat for those countries which are situated on consanguinity belt. Pakistan, a country consists of Punjab, Khyber Pakhtoonkhwa, Balochistan, Sindh, Gilgat Baltistan, FATA and a State of Azad Jammu & Kashmir, has 62.7% consanguineous rate. Marriages among close clan are a traditionally implemented process in this ethnic group. Thus high inbreeding rate increases the frequency of disease allele and leads to high mortality rate due to genetic disorders.Genetic disorders are classified into chromosomal aberration, Single Gene Disorders Mitochondrial conditions, Epigenetic consequences, etc.PGMD database intends to collect pathogenic variations indentified in Pakistani Population and their associated clinical symptoms.
The aim of PGMD database is to facilitate the researchers and clinical geneticist in Pakistan and around the world to investigate the genetic heterogeneity, establish genotype-phenotype association and identification of clinical markers of the genetic disorder on the basis of published data.The load of genetic diseases varies widely between different populations depending on its structure, reproductive practices and other factors. Control and management of the genetic disorders depend on identification of the variants in the genome that are causally linked with the disease. The spectrum of such variants, i.e. mutations, is different in different population groups. Remarkable progress has been made towards capturing the genomic variation in the context of genetic diseases with the advancement of DNA sequencing technologies, the capacity to handle large amount of data by building databases and faster dissemination of information through the world- wide web.