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Biography |
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PhD Manchester, UK (2002). Director of Clinical Genomics Center (2006 – Present) and Assistant Professor of Medical Genetics, Faculty of Medicine, Alexandria University. Senior Researcher in BA HCM National Study. Fogarty Scholarship Training in Health and Research Ethics, University of Maryland, USA (2005). Member of the Editorial Board of the Middle East Journal of Medical Genetics. Member of Alexandria Faculty of Medicine Ethics Committee and Alexandria University Research Committee. Served as a scientific reviewer on several national and international organizations for research grants and publication. Research interest: molecular and clinical genetics of inherited disorders and molecular profiling of cancer. Education: involved in medical genetics education programs. Clinical Service: clinical genetics and genetic counseling.
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Abstract |
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Genomics in medicine; Advancement of technology and value added |
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Next generation sequencing (NGS) enables simultaneous sequencing of large numbers of associated genes for genetically heterogeneous conditions such as hypertrophic cardiomyopathy (HCM), in a more rapid and cost-effective manner than traditional technologies. However there have been limited direct comparisons between NGS and long used technologies to assess the sensitivity and specificity of this relatively new approach.
In a pilot study of analyzing a randomly selected 150 HCM samples coanalysed by standard mutation screening in the three most commonly involved sarcomeric genes and were also subjected to targeted next generation sequencing of coding and exon flanking regions of over 100 genes involved in inherited cardiac conditions (ICC).
The preliminary application of NGS technology in HCM has revealed a higher mutation detection rate, higher frequency of homozygosity in an autosomal dominant disease. In addition, detection of complex genotypes involving sarcomeric and non sarcomeric genes was detected in over 20% of the studied cohort providing a possible explanation to the phenotype heterogeneity, a feature characteristic of this hereditary disorder.
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