I am a clinical geneticist. I obtained my PhD in Human Genetics from Alexandria University, Egypt in 2015. As a medical doctor specialized in clinical genetics, I have been working in the genetic clinic for almost 15 years in diagnosis and counselling of patients and families with different genetic disorders. Through my career I have great interest in clinical and molecular characterization of genetic disorders to improve understanding of these highly heterogenous diseases and improve accuracy of genetic counselling offered to affected families. This could be recognized from taking part in several publications of novel gene discovery. My research had previously focused on genomics of ciliopathies, which are multisystem disorders characterized by extensive genetic heterogeneity and clinical variability. This research was further supported when I was awarded Daniel Turnberg Travel fellowship from Academy of Medical Sciences to visit Institute of Child Health, University College London in June 2018.
After moving to the UK, I joined Prof. Houlden’s lab in ION. My main research focus is studying genetic basis of neurodevelopmental disorders, such as developmental delay, epileptic encephalothies and malformations of cortical development, seen in patients from different ethnic groups. Next-generation sequencing technology, deep phenotyping together with functional studies are all important aspects of my research. I am currently interested in using bioinformatic analysis of large datasets as 100K Genome Project to prioritise candidate genes.