The Department of Medical Genetics, at the Faculty of Medicine, celebrates Rare Disease Day

Under the patronage of Prof. Mohamed Diaa Zain El-Abedeen, President of Ain Shams University and Prof. Ali Al-Anwar, Dean of the Faculty of Medicine and Chairman of the Board of Directors of University Hospitals, and Prof. Tarek Youssef, Executive Director of Ain Shams University Hospitals, the Department of Medical Genetics at the Faculty of Medicine, at Ain Shams University, with the participation of the Egyptian Society for Genetic Diseases, the Genetics Center, and Nutricia Company, organized a celebration of the World Rare Disease Day, which falls at the end of February every year (Rare disease day). Metabolic Encephalopathies was chosen as this year's topic

This year's celebration focused on scientific research on rare diseases and their importance in making the possibilities limitless in treating patients, facilitating the process of diagnosing them, and finding a treatment for them.

Prof. Sulaf Muhammad, Head of the Department of Medical Genetics, at the Faculty of Medicine, at Ain Shams University, began the celebration by welcoming the attendees and presented an introduction to Rare Disease Day and the incidence of them in Egypt and the world, and that the genetic causes represent 70% of these diseases, and most of those who suffer from them are children. Her Excellency also indicated how to treat encephalopathy resulting from metabolic diseases.

A group of professors in the department gave a number of lectures, including: Prof. Ola Khalifa explained how to diagnose and treat high ammonia in the blood, and Dr. Shaima Gad and Dr. Marina Najeh explained the diagnosis and treatment of organic lipid disorders, and Dr. Nada Hammad and Dr. Samar Syed explained How to diagnose and treat high glycine in cerebrospinal fluid.

Dr. Radwa Gamal reviewed diagnosis and treatment of high citrulline in the blood, as presented by Dr. Muhammad Imam and Dr. Engy Tariq, how to diagnose and treat maple syrup urine disease, and Dr. Abdullah Muhammad, and Dr. Israa Hamdy, presented diagnosis and treatment of isovaleric disease.

In conclusion, the attendees discussed the lessons learned and the importance of early diagnosis and treatment of metabolic diseases to prevent complications of encephalopathy, in the presence of postgraduate student doctors, internship doctors, and Health Insurance Authority doctors from various governorates.