Scientific Research on Orphan (Rare) Diseases

The main goal of the project is to improve diagnostics, treatment, and the quality of life for patients with rare diseases.

What are orphan diseases?

Orphan (rare) diseases are those that affect a small number of people compared to the general global population. There is no universal definition or a single list of rare diseases, as each country develops its own criteria for classifying diseases into this category. According to different estimates, there are between 6,000 and 8,000 rare conditions.

In Kazakhstan, diseases are considered orphan if their prevalence is no more than 50 cases per 100,000 people. According to the European Union, around 300 million people worldwide suffer from orphan diseases. In Kazakhstan, 12,948 children are registered with orphan diseases, with 7,239 of those cases involving the central and peripheral nervous systems.

Many orphan (rare) diseases lack effective diagnostic and treatment methods, appropriate medical and social support, and are often complex and expensive for patients. The cost of medications for orphan diseases can reach thousands or even millions of dollars.

Project Objectives:

• Establish an R&D laboratory at Nazarbayev University to develop and produce therapeutic oligonucleotides for treating orphan diseases;
• Conduct research aimed at identifying new genetic rare diseases;
• Purchase equipment and reagents, recruit staff, and provide training;
• Develop a PCR test;
• Create a scientific and clinical biomedical ecosystem.