I am a joint PhD student and research fellow in the department of molecular neuroscience at the UCL institute of neurology. My research isfunded by Newton_Mosharafa fund. I completed my Masters degree in neurology and psychiatry at the Assiut University, Egypt and I am currently undertaking my Medical Doctor degree in neurology.
My PhD research project is about the mutation analysis of an Egyptian cohort with different neurogentic disorders. I am interested in studying the clinical and molecular features of these disorders especially hereditary peripheral neuropathy, spinocerebellar ataxias and hereditary spastic paraplegia. My research work was started in Egypt by collecting a large series of patients and families suffering from these neurogenetic conditions.
The aim of my study is to characterize the genetic background for these disorders in an Egyptian cohort by detecting the causative mutation using different techniques, to follow those mutations in the other family members and to correlate the genotype and phenotype of these conditions. This will help in establishing a genetic characterization of this previously unexplored population. This is considered the initial step in approaching the therapeutic management of those patients.
I have used different techniques and analysis skills for the molecular diagnosis from MLPA for cases of inherited neuropathy, fragment analysis for the cases of SCA to advanced next generation exome sequencing for the HSP and the other undiagnosed cases.