The 3rd National Conference on the Prevention of Orphan Diseases will be held in Uzbekistan.
The event will discuss issues of early detection of rare diseases, modern treatment methods, and the provision of medical and social assistance to patients.
On May 22, the 3rd National Conference dedicated to the prevention of rare orphan diseases in the Republic of Uzbekistan will commence for the first time with the participation of international experts, organized by the Public Foundation for Support of Children under the auspices of the Oliy Majlis and the Cabinet of Ministers.
Local and foreign specialists have been invited to this event to discuss modern treatment methods for rare diseases and new approaches to early diagnosis.
Orphan diseases belong to the category of rare diseases. In the USA, about 200,000 people, in Japan about 50,000, and worldwide 300 million patients (5% of the total population) suffer from this disease. Thus, every twentieth person on the planet suffers from this disease throughout their life. According to the latest data, there are over 7,000 types of orphan diseases.
It is known that the Public Foundation for Support of Children has widely involved experienced Russian specialists in Uzbekistan to early identify children with rare (orphan) and other hereditary genetic diseases across the republic, correctly diagnose them, provide medical and social assistance, and improve the professional qualifications of local doctors.
Improving the treatment system for patients with orphan diseases, creating the necessary conditions for their timely provision with medicines, increasing life expectancy and improving its quality is a common task requiring the joint efforts of healthcare organizations, medical specialists, and the patient community.
Over the past years, the Foundation has implemented a number of measures to treat children suffering from "Osteogenesis Imperfecta" and "Gaucher" disease, provide them with necessary medications, and improve medical skills for early diagnosis and timely detection of the disease. Within the framework of the "Orphan Caravan" week, 340 children underwent medical examinations.
During the "Crystal Children" campaign, complex surgical operations were performed on 150 children. Over 500 "Master Classes" were organized for local doctors. The Foundation spent nearly 30 billion soums on these purposes.
For the first time, the Foundation imported the drug "Glurazyme" into Uzbekistan for the treatment of children registered with Gaucher disease. Each vial of this drug costs $2,350.
In 2025, a Resolution of the President of the Republic of Uzbekistan was adopted "On approval of the program of measures for organizing medical and social assistance to children with rare (orphan) and other hereditary genetic diseases in 2026-2030." Based on the resolution, important tasks have been defined for early detection of orphan diseases, expanding diagnostic capabilities, introducing modern treatment mechanisms, developing high-tech medical services, and providing comprehensive social support to sick children.
At the conference, opinions will be exchanged on global medical approaches, trends, specific treatment methods for these diseases, and unique experiences used in complex practices. In this regard, a number of proposals will be made to widely disseminate these international experiences in Uzbek medicine and take measures for timely treatment of the disease.
Foreign specialists will deliver lectures and presentations on the topic. The research conducted in Uzbekistan during the past period and its results will be extensively analyzed.
