Name
Role
My current role
I am currently a specialty trainee and registrar in clinical genetics. I work within various areas of clinical genetics including but not limited to paediatrics, adult cancer, and prenatal genetics.
My specialist interests include neurogenetic and neurometabolic disorders.
I am currently undertaking a PgCert in the interpretation and clinical application of genomic data at St George's, University of London.
Previous history
Before joining the department of clinical genetics in 2021, I finished my general training in paediatrics at Cairo University children's hospitals. I was subsequently appointed as an assistant lecturer then as a lecturer of paediatrics at Cairo University where I finished my subspecialty training in paediatric neurology and paediatric metabolic medicine.
I subsequently obtained a doctorate of medicine in paediatrics (M.D.) with research on clinical and genetic spectrum of epileptic encephalopathies in Egyptian infants and children.
I subsequently joined a fellowship in paediatric inherited metabolic disorders at GOSH in 2019, followed by a fellowship in metabolic medicine at Cambridge University hospitals in 2020-2021 before joining the specialty training in clinical genetics.
Membership and accreditations
- Member of the Royal College of Paediatrics and Child Health (RCPCH).
- Collegiate member of the Royal College of Physicians (RCP).
- Member of the British Society for Genetic Medicine (BSGM).
- Affiliate member of the European Society of Human Genetics (ESHG).
- Member of British Inherited Metabolic Disease Group (BIMDG).
- Member of the Society for the Study on Inborn errors of Metabolism (SSIEM).
- Member of the Egyptian Neuropediatric society (ENPS).
Publications
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Elkhateeb N, Olivieri G, Siri B, et al. Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology. medRxiv 2022.10.19.22281191
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Mahmoud IG, Elmonem MA, Elkhateeb NM, et al., Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations. Clin Genet. 2019;95:537-539.
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Nabhan MM, ElKhateeb N, Braun DA, et al. Cystic kidneys in fetal Walker–Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. Am J Med Genet Part A. 2017;173A:2697–2702.
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Ebrahimi-Fakhari D, Teinert J, Behne R, et al. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020;143:2929-2944
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Elkhateeb N, Chakrapani A, Davison J, Grunewald S, Batzios S. Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication. JIMD Rep. 2020;57(1):15-22.