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个人简介
My prime research interest includes the fields of nephrology and genetics. As a medical student and subsequently a clinician, I have been fascinated by renal physiology and consistently attempted to learn about the cellular and molecular mechanisms of renal diseases. Understanding the basics of genetic code and its functional implications represents a cornerstone in the study of renal pathology. The development of novel targeted therapeutic interventions is now possible through the discovery of the molecular and cellular pathogenesis of numerous clinical diseases.
During my previous clinical training in Egypt, I had the opportunity of diagnosing and treating pediatric patients with a variety of renal diseases. Because of the high prevalence of consanguineous marriages, I frequently came across patients with genetic diseases, such as renal tubular diseases, renal ciliopathies, and familial HUS. With the help of Dr. Friedhelm Hildebrandt’s laboratory, we established molecular genetic diagnoses for many patients. A monogenic cause was identified for patients who presented with steroid-resistant nephrotic syndrome (SRNS). This constituted a breakthrough and substantially influenced the plan of management, and this experience sparked my interest in nephro-genetics.
Having completed my pediatric residency in 2014, research and teaching enriched my academic career as a junior attending physician. I received multiple awards from residents and medical students for teaching the basics of renal physiology and pathology. I also completed a clinical research project that investigated the long-term history of rheumatic fever and rheumatic heart disease in a cohort of 150 Egyptian children who were followed at my hospital. The study identified the severity of carditis at disease onset and lack of adherence to penicillin prophylaxis as the most detrimental risk factors leading to disease complications.
I moved to the US in 2017 and I worked as a pediatric resident at Brookdale University Hospital in New York. I designed and implemented a research study on the accuracy of electrolyte measurements in blood gas samples in comparison to serum samples in the NICU. My research was presented in the nephrology section of the Pediatric Academic Societies Conference in March 2020.
I subsequently joined the nephrology fellowship program at Boston Children’s Hospital, where I joined the laboratory of Dr. Friedhelm Hildebrandt to be a member of the nephrosis research team. The Hildebrandt Lab has had significant research contributions to the field of renal genetics. We use whole-exome sequencing (WES) to explore novel monogenic causes of SRNS through analyzing genetic data from our current international cohort of more than 1,300 families with SRNS. During my first year at the lab, I have extended my knowledge in genetics and different molecular genetic techniques. With the help of an outstanding mentor and through a well-built career development plan, my research experience will valuably contribute to my future as a physician-scientist in the field of the genetics of kidney disease.
研究兴趣
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Florian Buerger, Lea M Merz, Ken Saida, Seyoung Yu,Daanya Salmanullah, Katharina Lemberg, Nils D Mertens,Bshara Mansour,Caroline M Kolvenbach,Kirollos Yousef, Alina Braun, Gijs A C Franken,
American journal of physiology. Renal physiology (2024)
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