Dr Nadia Akawi

Postdoctoral Fellow


This person is a member of Sanger Institute Alumni.

I am a member of the analysis team of the Deciphering Developmental Disorders (DDD) project. My major interests lie within the field of human clinical genetics. Primarily, identifying the genetic causes of congenital genetic disorders and to some extent the underlying molecular/genetic mechanisms. I participated in the discovery of several new disease-causing genes and provided genetic diagnosis for a substantial number of children with developmental disorders and their families. My main contributions to this research field have been published in peer-reviewed journals.

Coming from a clinical laboratory diagnostics background, I did my PhD in Clinical genetics which is concerned with the diagnosis of disorders and birth defects caused by genetic mechanisms.

Since consanguineous marriages are prevalent in the Middle East, I studied mainly recessive disorders segregating in a small number of extended complex families using homozygosity mapping approach to identify disease-loci and candidate genes.

In my current post doctoral investigations I delved more into the field of clinical genetics by analysing high-throughput sequencing data of a large set of mainly nonconsanguineous small families with rare developmental disorders. My main approach to identify disease-causing genes/mutations now is heavily relying on matching phenotyping similarities between unrelated patients carrying apparently rare pathogenic genotypes in genome-wide significant genes.

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