As a result of cultural, historical, regional, and socio-economic factors in the Middle East a higher proportion of families are consanguineous (have a high degree of relatedness). The increased levels of consanguinity (and hence higher incidence of Mendelian recessive disorders), and the lack of representation of middle eastern genomes in the public domain at present, provide a unique opportunity for gene discovery due to the enrichment for autozygosity in families which can inform recessive gene-disease associations and variant interpretation.
In collaboration with Dr Ehsan Karimiani and Dr Reza Maroofian we set up the Middle Eastern Genome Project (MEGP) to investigate the underlying genetic cause in families with rare inherited conditions, including neurodevelopmental, musculoskeletal and cardiac disorders. We now have over 2000 individuals recruited, and next generation sequencing data available from the majority of cases. All study participants/guardians have provided written informed consent for the use of their DNA in studies aimed at identifying genetic risk variants for disease and broad data sharing. Data from the cohort has already enabled multiple collaborations with research groups worldwide and the publication of over 50 research papers.
We are currently working on a Variant Browser - if you’d like to see how its going you can try it here: