In 2023-2025, a study of genetic mutations, autoantibodies and blood cytokines in Kazakh patients with rheumatoid arthritis, systemic lupus erythematosus and systemic scleroderma is being conducted on the basis of the National Scientific Medical Center.
Currently, there is an increase in autoimmune diseases worldwide, contributing to the increase in disability of young people of working age. Rheumatoid arthritis, systemic lupus erythematosus and systemic scleroderma are receiving increased attention, the range of therapeutic interventions is expanding, but in reality there are no medicines for a definitive cure. The problem is associated with the gradual progression and serious damage to organs and tissues, often developing even before the disease can be diagnosed clinically. This observation confirms the need for immunological and genetic studies aimed at improving the diagnosis of autoimmune diseases in the early stages, even before irreversible damage to organs and tissues occurs.
The aim of the project is to study the relationship between genetic mutations, the production of autoantibodies and cytokines and the development of rheumatoid arthritis, systemic lupus erythematosus and systemic scleroderma in people of Kazakh nationality. Based on the data of this study, it is planned to develop a panel of genetic and immunological markers for the early diagnosis of autoimmune diseases, which will contribute to the timely initiation of therapy, prevent the development of irreversible damage to organs and tissues, improve quality of life, reduce the frequency of hospitalization and treatment costs, reduce mortality from systemic lupus erythematosus and scleroderma. The significance of the international scale lies in the fact that the increase in genetic studies involving patients of different nationalities contributes to the expansion of data on the pathogenesis of autoimmune pathologies, and, consequently, on possible targets for therapeutic effects.
The research group of the project
1. Zaripova L.N. – PhD, project manager, rheumatologist; responsible for recruiting patients, monitoring the project and analyzing the results. ResearcherID Web of Science: G-4805-2014. ORCID: 0000-0001-8728-0225. Scopus Author ID: 57237391800.
2. Boltanova A.A. is a specialist at the central research laboratory of the National Research Center; conducts laboratory tests of blood serum for autoantibodies and cytokines. ResearcherID Web of Science: GZA-8724-2022. ORCID: 0000-0003-0886-5116.
3. Iglikov T.O. is a specialist in the NNMC genetic laboratory; conducts targeted sequencing of the obtained samples. ResearcherID Web of Science: GZB-1313-2022. ORCID: 0000-0002-6954-161X.
4. Solomadin M.V. - design of NGS panels, targeted sequencing of the next generation, bioinformatic analysis, statistical analysis. ResearcherID Web of Science: GZB-1407-2022. ORCID: 0000-0003-4219-1055.
5. Batyrbek N.K. - specialist of the Scientific and Innovative Management Department of the National Research and Development Center; reporting.
6. Romatilova A.A. - Deputy Head of the Department of Economic Analysis and Planning of Mexel Health LLP; financial part of the project, reports.
7. Abdrakhmanova Z.M. is a nurse in the treatment room of the NNMC; she takes clinical blood samples.
To enroll in a study for patients with rheumatoid arthritis, systemic lupus erythematosus or systemic scleroderma, please call: +7 (7172) 23-39-38.