Egyptian paediatric haematologist Amal El-Beshlawy has won an international lifetime achievement award for her nearly 27 years of work in diagnosing and treating Gaucher disease.
El-Beshlawy, a professor of paediatric haematology at Cairo University’s Faculty of Medicine and Qasr Al-Ainy hospitals, received the award at an international rare diseases conference held recently in Paris. It recognizes her clinical research, medical leadership, and efforts to improve care for children living with the rare inherited condition.
The award, presented by pharmaceutical company Sanofi, recognizes doctors and scientists whose work has significantly advanced the understanding, diagnosis, and clinical management of rare diseases.
El-Beshlawy’s research and clinical leadership have contributed to a better understanding of type 3 Gaucher disease. Her participation in international disease registries and her work on medical care guidelines have also helped improve the management of affected children.
Her work has focused on promoting early diagnosis, improving access to treatment and raising doctors’ awareness of how to recognize and manage the disease. These efforts have helped support more consistent care for patients in Egypt and the wider region.
Cairo University welcomed the award, describing it as recognition of the scientific standing of its researchers and the contribution of Qasr Al-Ainy’s medical professionals to healthcare beyond Egypt.
Hossam Salah, dean of the Faculty of Medicine and chairman of the university hospitals’ board, congratulated El-Beshlawy, saying her achievement reflected the ability of Egyptian medical professionals to compete at leading international scientific and medical forums.
Beyond research and clinical practice, El-Beshlawy has contributed to international collaboration, medical education, and the training of a new generation of specialists in rare diseases.
Gaucher disease is a rare inherited disorder caused by a deficiency of an enzyme needed to break down certain fatty substances inside cells. As these substances accumulate, they can damage organs and other tissues.
The disease can cause enlargement of the liver and spleen, bone pain and other skeletal complications. Symptoms and severity vary depending on the type of disease and the individual patient.
As its symptoms can resemble those of other conditions, recognizing Gaucher disease and establishing an accurate diagnosis are important for ensuring appropriate treatment and ongoing medical monitoring.
The award ceremony also honoured Italian professor Maria Domenica Cappellini for her scientific and research contributions to Gaucher disease, beta thalassaemia, and related haemoglobin disorders.
El-Beshlawy’s achievement highlights the role of Egyptian specialists in advancing care for rare diseases, where sustained clinical expertise, research, and international cooperation can help improve patients’ quality of life.
source/content: english.ahram.org.eg (headline edited)
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