Al -Aini Palace researchers document the first genetic map of genetic stagnation
In a scientific step that reflects the spirit of leadership and social responsibility, a research team from the Faculty of Medicine of Qasr Al -Aini, Cairo University, has achieved an unprecedented achievement in the field of rare genetic diseases, by documenting the first clinical genetic map of the genetic bile stagnation in children in Egypt, thus the first study of its kind in the African continent. Nihal Al -Kufi, Professor Dr. Mortada Al -Shabrawi, Professors of Pediatrics, and Prof. Dr. Mohamed Abdel Moneim, Professor of Clinical Pathology, under the patronage of Professor Dr. Mohamed Sami Abdel -Sadiq, President of the University, and under the direct supervision of Professor Dr. Hossam Salah, Dean of the College of Medicine and Chairman of the Board of Directors of Cairo University Hospitals, who confirmed that & LDQUO; Luxury, but rather a patient’s life rescue tool & rdquo;
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The results of the study were published in the Clinical Genetics issued by the International Publishing House, which is a dependent reference in genetic medicine. The research paper focused on the description of the clinical and genetic spectrum of a mutation that causes a rare type of hereditary liver diseases known as the progressive genetic stagnation & quot; pfic & quot; a group of serious disorders that affect children in early stages, and leads to the accumulation of bile acids inside the liver, which may cause severe complications such as growth failure, chronic itching, deficiency, deficiency Vitamins, liver failure, and even the development of hepatic tumors."Color:#27ae60;"> New mutations … and an Egyptian reference for the world
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The study included 31 Egyptian children suffering from one of PFIC types, and the genetic mutations that cause the disease have identified. For the first time globally, a great scientific precedent and places Egypt on the map of the global research in this field. The concerned. How to use science in the face of rare and complex diseases, which is a natural extension of what our university institutions should be & quot;
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& nbsp; Medicine & quot; & nbsp; in Egypt and the Arab world, where the results contribute to supporting future genetic therapy research, and open the prospects for international research cooperation. Study & nbsp;"
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