The Arabian Gulf University (AGU) recently organised a lecture entitled "The Importance of Rare Diseases in Medical Education, Community Services, and Awareness," attended by a selection of academics and medical students. The lecture aimed to highlight the role of medical education in raising awareness about rare diseases and the importance of early diagnosis.

The lecture was presented by Dr Cristina Skrypnyk, Consultant in Genetic Diseases at the University and Head of the Bahraini Campaign for Rare Diseases. She addressed the importance of including rare diseases in medical curricula for both undergraduate and postgraduate levels. This is intended to enhance the knowledge of future medical personnel and enable them to diagnose these cases early and accurately, thereby contributing to improved healthcare and effective treatment management.

Furthermore, AGU has organised a Rare Diseases Campaign for more than 12 years, achieving a wide impact on community awareness of these diseases through the hosting of awareness events, scientific seminars, and the launch of support campaigns for patients and their families. The campaign has also attracted a large number of volunteers from doctors, medical students, and members of the community, contributing to building an integrated support network for people with rare diseases.

In this context, Dr Skrypnyk, stressed the importance of continuing these efforts, noting that enhancing the awareness of the medical community and the general public about rare diseases directly contributes to improving opportunities for early diagnosis and providing appropriate care for those affected, which is positively reflected in their quality of life.

Statistics indicate that there are more than 7,000 known rare diseases to date, and the total of these diseases affects approximately 300 million people worldwide, equivalent to 1 in 20 people. Despite this, the majority of patients face significant difficulties in accessing the correct diagnosis, with an average of 4 to 5 years to obtain an accurate diagnosis.

During this period, patients often receive incorrect or delayed diagnoses. In addition, 80% of these diseases are of genetic origin, and half of those affected are children, which stresses the urgent need to promote medical and community awareness of these rare cases.