Genetic Disorders of the Indian Subcontinent

The hospital admitted patients with complaints that were expected in the region. Although Aga Khan University Hospital is a pioneer in establishing Emergency Medicine as an official medical discipline in the region, the hospital's obstetrics and gynecology, trauma, toxicology and prehospital services training do not meet current curriculum standards set forth by the Society of Academic Emergency Medicine and the Council of Emergency Medicine Residency Directors. Nevertheless, the review provides a snapshot of the development of Emergency Medical Services in a developing nation. This information may assist other nations that are interested in developing such programs.

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Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions

Erzurumluoglu

Shihab

Rodriguez

et al. 2016

Annals of Human Genetics

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SummaryConsanguineous offspring have elevated levels of homozygosity. Autozygous stretches within their genome are likely to harbour loss of function (LoF) mutations which will lead to complete inactivation or dysfunction of genes. Studying consanguineous offspring with clinical phenotypes has been very useful for identifying disease causal mutations. However, at present, most of the genes in the human genome have no disorder associated with them or have unknown function. This is presumably mostly due to the fact that homozygous LoF variants are not observed in outbred populations which are the main focus of large sequencing projects. However, another reason may be that many genes in the genome—even when completely “knocked out,” do not cause a distinct or defined phenotype. Here, we discuss the benefits and implications of studying consanguineous populations, as opposed to the traditional approach of analysing a subset of consanguineous families or individuals with disease. We suggest that studying consanguineous populations “as a whole” can speed up the characterisation of novel gene functions as well as indicating nonessential genes and/or regions in the human genome. We also suggest designing a single nucleotide variant (SNV) array to make the process more efficient.

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Genetic Disorders of the Indian Subcontinent

Cited by 5 publications

References 259 publications

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Importance of Genetic Studies in Consanguineous Populations for the Characterization of Novel Human Gene Functions

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