Enabling Clinical Genomics in Middle East
Empowering Clinicians and Researchers through Education
The Genomic Variant Analysis and Interpretation Course (GVACI) was participated by over 20 clinicians and researchers from the Middle East.
The Genomic Variant Analysis and Interpretation Course provides clinicians with the knowledgebase to evaluate evidence and classify the pathogenicity of genetic variants.
Workshop on Exome Sequence Analysis and Interpretation at the 7th International Genetic Disorders Conference, Dubai organized by UAE Genetic Diseases Association.
Enabling Clinicians & patients through Research
Disease Alleles in Arabs (DALIA) - a comprehensive resource of genetic variants associated with genetic diseases
The Arab world encompassing Middle East and North Africa is home to over 350 million people. This approximately represents over 5% of the world population and is characterized by significant ethnic, linguistic and genetic diversity, while encompassing similarities in language, traditions, cultural practices as well as geographic proximity. A number of diseases are quite prevalent in the Arab world. A large part of this is attributed to the widespread practice and norm of consanguinity in the region. Understanding the genetic characteristics of many such diseases would provide the much necessary knowledge to build an effective healthcare system where early screening, early diagnosis and effective management can significantly reduce the morbidity and mortality due to such diseases.
Vatsyayan V, Sharma P, Gupta S, Sandhu S, Venu SL, Sharma V, Badaoui B, Azedine K, Youssef S, Rajab A, Fayez A, Madinur S, Ranawat A, Pandhare K, Ramachandran S, Sivasubbu S, Scaria VDALIA- a comprehensive resource of Disease Alleles in Arab populationPLoS ONE (2021)
Genetic epidemiology of Familial Mediterranean Fever through integrative analysis of whole genome and exome sequences from Middle East and North AfricaFamilial Mediterranean fever (FMF), an autosomal recessive and rare autoinflammatory disease is caused by genetic mutations in the MEFV gene and is highly prevalent in the Mediterranean basin. Though the carrier frequency of specific disease variants in the MEFV gene has been reported from isolated studies, a comprehensive view of variants in the Mediterranean region has not been possible due to paucity of data. The recent availability of whole-genome and whole-exome datasets prompted us to study the genetic epidemiology of MEFV variants in the region. We assembled data from five datasets encompassing whole-genome and whole-exome datasets for 2115 individuals from multiple subpopulations in the region and also created a compendium for MEFV genetic variants, which were further systematically annotated as per the ACMG guidelines. Our analysis points to significant differences in allele frequencies in the subpopulations, and the carrier frequency for MEFV genetic variants in the population to be about 8%. The MEFV gene appears to be under natural selection from our analysis. To the best of our knowledge, this is the most comprehensive study and analysis of population epidemiology of MEFV gene variants in the Middle East and North African populations.
CitationKoshy R, Sivadas A, Scaria V.Genetic epidemiology of Familial Mediterranean Fever through integrative analysis of whole genome and exome sequences from Middle East and North AfricaClinical Genetics (2017) Accepted DOI: 10.1111/cge.13070
Impacting Clinical Genomics through Collaborations
Sharma P, Jain A, Scaria VGenetic landscape of rare autoinflammatory disease variants in Qatar and Middle Eastern populations through the integration of genomic datasetsFront Genet . 2021 May 13;12:631340. doi: 10.3389/fgene.2021.631340.
Sivadas A, Scaria VPharmacogenomic survey of Qatari populations using whole genome and exome sequencesThe Pharmacogenomics Journal. (2018) Accepted
Jain, A, Gandhi S, Koshy R, Scaria V*Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from QatarMolecular Genetics and Genomics (2018) doi.org/10.1007/s0043
Jithesh PV, Scaria VFrom Genomes to Genomic Medicine- Enabling Personalised and Precision Medicine in the Middle EastPersonalized Medicine (2017) DOI: 10.2217/pme-2017-0048
Koshy R, Sivadas A, Scaria V.Genetic epidemiology of Familial Mediterranean Fever through integrative analysis of whole genome and exome sequences from Middle East and North AfricaClinical Genetics (2017) DOI: 10.1111/cge.13070
Scaria VEnabling Genomic Medicine in Qatar - from Genomes to Translational GenomicsResearch Reports, 1(1) Aug 28, 2017
Sandhya P, Vellarikkal SK, Nair A, Ravi R, Mathew J, Jayarajan R, Kumar A, Verma A, Sivadas A, Danda D, Sivasubbu S*, Scaria V*An Egyptian tale from India - application of whole-exome sequencing in diagnosis of atypical Familial Mediterranean FeverInt J Rheum Dis (2017) DOI: 10.1111/1756-185X.13042
Sivadas A, Sharma P, Scaria VLandscape of warfarin and clopidogrel pharmacogenetic variants in Qatari population from whole exome datasetsPharmacogenomics (2016) Accepted doi: 10.2217/pgs-2016-0130