On February 26, 2025, at the Department of Propaedeutics of Children’s Diseases, assistant Tugelbayeva A.M. and students of the 439 curatorial group held an event dedicated to the “International Day of Rare Diseases” within the framework of the Sustainable Development Goal “Good Health and Well-being”. The event was held in the form of a round table, students exchanged knowledge and discussed.

At the initiative of the European organization for the study of rare diseases EURORDIS, the rarest day of the year – February 29 – officially received the status of International Day of Rare Diseases (Rare Disease Day). In non-leap years, the holiday is celebrated on February 28.

This Day is celebrated worldwide annually to raise awareness of rare diseases.

Rare diseases exist in every field of medicine. About 80 percent of them are genetic in nature. In total, according to experts, there are about 5-7 thousand life-threatening rare diseases in the world. Among them there are very exotic diseases: Kabuki syndrome (in Europe there are about 300 cases), Pallister-Killian syndrome (in Europe – 30 cases), progressive bone heteroplasia, Niemen-Pick disease, Gauche disease. There are also those that are more common: cystic fibrosis, hemophilia, various forms of cancer, myeloma, Alzheimer’s disease, Huntington’s disease and others.

For most rare diseases there is no effective treatment, but there are methods to improve the quality and duration of life of patients.