Dr Elham Sadighi Akha
Post-doctoral research scientist
Considerable attention has been focused on the role of copy number variations (CNVs) in the pathogenesis of disease in the near past. Copy number aberrations were initially studied extensively in cancer patients but have been shown to be associated with (susceptibility to) diseases such as DiGeorge and Potocki-Lupski syndromes. Currently the method of choice for detection of CNVs is array comparative genomic hybridisation (aCGH). This technique, which has been developed for genome-wide assessment of CNVs, allows for high-resolution examination of thousands of genomic loci for copy number changes.
My work at this time centres on the use of several microarray platforms to investigate CNVs in a number of clinical disorders. This approach has two main objectives in mind: the potential discovery of genomic elements underlying the pathogenesis of disorders under study, and striving to optimise the aCGH platforms for use within clinical diagnostic settings.