2024-2026

BR24992881

Development of cellular, genomic and proteomic technologies for the diagnosis of socially significant diseases in the Republic of Kazakhstan

Aims

To develop cellular, genomic and proteomic technologies for the diagnosis of socially-significant diseases in the Republic of Kazakhstan

Relevance

In the Republic of Kazakhstan, the government pays special attention to the development of highly sensitive and accurate methods for diagnosis of various diseases. The Ministry of Health has approved a list of socially-significant diseases, such as malignant neoplasms, diabetes, a number of cardiovascular and infectious diseases, diseases of the nervous system, etc. (Decree № DSM-108/2020 from the Ministry of Health of the Republic of Kazakhstan from September 23, 2020). As part of this scientific and technical program, methods and technologies will be developed for the effective diagnosis of socially significant diseases using modern cellular, genomic, proteomic technologies and instrumental methods, such as next-generation sequencing (NGS), mass spectrometry, digital PCR, real-time PCR, CRISPR/Cas technology, DNA barcoding, etc. Within the framework of the Program, it is planned to develop methods for early diagnosis of orphan diseases, including phenylketonuria and Gaucher disease, diagnosis of Alport syndrome, MODY diabetes, ischemic stroke, colorectal cancer; as well as develop technologies and test systems for detection of a number of infectious diseases caused by pathogens of both bacterial (Borrelia burgdorferi, Borrelia miyamatoi, Acinetobacter baumannii) and viral origin (rotaviruses and adenoviruses). To ensure further production of domestic test systems, it is proposed to develop a technology for obtaining thermostable RNA and DNA dependent polymerases used in PCR test systems, and a high-precision DNA technology for the authentication of herbal medicine. These developments will not only improve the quality of medical care and quality of patient’s life in Kazakhstan, but will also increase its competitiveness at the international level, promoting the widespread use of modern diagnostic technologies in clinical practice and laboratory diagnostics.

Thus, in order to achieve progress in this relevant area, the main goal of our study was formulated and the expected results were determined.

Expected results

As a part of the program, the following steps will be carried out

01 Target sequencing method of phenylalanine hydroxylase gene will be developed for the diagnosis of phenylketonuria
02 A novel method for determining proteomic biomarkers of stroke using mass spectrometry will be obtained
03 A novel method for determining proteomic biomarkers of stroke using mass spectrometry will be developed
04 An immunochromatographic test system will be developed, allowing to determine the immune status in acute respiratory infections
05 The development of a method for diagnosing antibiotic resistance of Acinetobacter baumannii nosocomial infections based on CRISPR/Cas technology
06 A mass spectrometry-based diagnostic method for Gaucher disease will be implemented to improve the accuracy and speed of disease identification
07 The technology for diagnosing Alport syndrome will be developed using next-generation sequencing
08 A new approach for identifying mutations in the KRAS/BRAF genes will be developed for the effective diagnosis of metastatic colorectal cancer
09 A thermostable RNA-dependent and DNA-dependent polymerase will be obtained for the molecular and genetic detection of pathogens of urogenital infections
10 The development of a test system based on real-time PCR will ensure the detection of pathogens of Lyme disease (Borrelia burgdorferi sensu lato) and tick-borne relapsing fever (Borrelia miyamotoi)
11 DNA barcoding and high-throughput sequencing technologies will be implemented for herbal medicine authentication used in pediatric practice
12 At least 9 (nine) articles and (or) reviews have been published in peer-reviewed scientific journals that are in the 1st (first), 2nd (second) and (or) 3rd (third) quartiles by impact-factor in the Web of Science database and (or) having a CiteScore percentile in the Scopus database of at least 50 (fifty). At least 10 (ten) articles in journals recommended by the SHEQAC (Science and Higher Education Quality Assurance Committee), and at least 1 (one) monograph recommended by the academic council of the applicant’s organization. At least 5 (five) intellectual property objects (patents or copyright certificates in the field of information technology) have been registered with the National Institute of Intellectual Property of the Republic of Kazakhstan)

About program executors

LLP “National Center for Biotechnology”
The branch of LLP “National Center for biotechnology” in Almaty

Head of program

h-Index - 11

TARLYKOV PAVEL VIKTOROVICH

Ph.D., Associate Professor

Specialist in the field of genomics, proteomics and mass spectrometry, the author of more than 100 scientific papers, Hirsch index - 11 (Scopus). Studied in the master’s program “Bolashak” (USA, Montana State University, 2007-2009). Scholarship holder of the World Federation of Scientists (Switzerland, 2010). COmpleted internships in France (Institute Gustave-Roussy, 2011-2012), Russia (“Medical and Genetic center of N.P. Bochkov”, 2012).

Responsible executors

Aleksandr Shevtsov

Candidate of Biological Sciences, Associate Professor

Head of the Laboratory of Applied Genetics of the NCB

h-Index - 11

Elena Zholdybaeva

Candidate of Biological Sciences, Associate Professor

Head of the National Scientific Shared Laboratory of Biotechnology of the NCB

h-Index - 11

Gulmira Kulmambetova

PhD in Biology, Associate Professor

Leading Researcher at the National Scientific Shared Laboratory of Biotechnology of the NCB

h-Index - 3

Arman Kulyyasov

Candidate of Chemical Sciences/h3>

Chief Researcher of the Laboratory of Proteomics and Mass Spectrometry of the NCB

h-Index - 10

Kanatbek Mukantayev

Doctor of Biological Sciences, Associate Professor

Head of the Laboratory of Immunochemistry and Immunobiotechnology of the NCB

h-Index - 5

Sailau Abeldenov

PhD

Head of the Laboratory of Molecular Biotechnology of the NCB

h-Index - 4

Ostapchuk Ekaterina

PhD, Associate Professor

Head of the Laboratory of Immunology and Immunobiotechnology of the NCB branch in Almaty

h-Index - 10

Bekbolat Khassenov

Candidate of Chemical Sciences, professor in the specialty "Biological Sciences"

Head of the Laboratory of Genetics and Biochemistry of Microorganisms of the NCB

h-Index - 9

Oksana Hapilina

Candidate of Biological Sciences

Head of the Laboratory of Plant Genomics and Bioinformatics

h-Index - 5

Publications

    BR24992881

    2024-2026

    BR24992881

    Development of cellular, genomic and proteomic technologies for the diagnosis of socially significant diseases in the Republic of Kazakhstan

    Aims

    To develop cellular, genomic and proteomic technologies for the diagnosis of socially-significant diseases in the Republic of Kazakhstan

    Relevance

    In the Republic of Kazakhstan, the government pays special attention to the development of highly sensitive and accurate methods for diagnosis of various diseases. The Ministry of Health has approved a list of socially-significant diseases, such as malignant neoplasms, diabetes, a number of cardiovascular and infectious diseases, diseases of the nervous system, etc. (Decree № DSM-108/2020 from the Ministry of Health of the Republic of Kazakhstan from September 23, 2020). As part of this scientific and technical program, methods and technologies will be developed for the effective diagnosis of socially significant diseases using modern cellular, genomic, proteomic technologies and instrumental methods, such as next-generation sequencing (NGS), mass spectrometry, digital PCR, real-time PCR, CRISPR/Cas technology, DNA barcoding, etc. Within the framework of the Program, it is planned to develop methods for early diagnosis of orphan diseases, including phenylketonuria and Gaucher disease, diagnosis of Alport syndrome, MODY diabetes, ischemic stroke, colorectal cancer; as well as develop technologies and test systems for detection of a number of infectious diseases caused by pathogens of both bacterial (Borrelia burgdorferi, Borrelia miyamatoi, Acinetobacter baumannii) and viral origin (rotaviruses and adenoviruses). To ensure further production of domestic test systems, it is proposed to develop a technology for obtaining thermostable RNA and DNA dependent polymerases used in PCR test systems, and a high-precision DNA technology for the authentication of herbal medicine. These developments will not only improve the quality of medical care and quality of patient’s life in Kazakhstan, but will also increase its competitiveness at the international level, promoting the widespread use of modern diagnostic technologies in clinical practice and laboratory diagnostics.

    Thus, in order to achieve progress in this relevant area, the main goal of our study was formulated and the expected results were determined.

    Expected results

    As a part of the program, the following steps will be carried out

    01 Target sequencing method of phenylalanine hydroxylase gene will be developed for the diagnosis of phenylketonuria
    02 A novel method for determining proteomic biomarkers of stroke using mass spectrometry will be obtained
    03 A novel method for determining proteomic biomarkers of stroke using mass spectrometry will be developed
    04 An immunochromatographic test system will be developed, allowing to determine the immune status in acute respiratory infections
    05 The development of a method for diagnosing antibiotic resistance of Acinetobacter baumannii nosocomial infections based on CRISPR/Cas technology
    06 A mass spectrometry-based diagnostic method for Gaucher disease will be implemented to improve the accuracy and speed of disease identification
    07 The technology for diagnosing Alport syndrome will be developed using next-generation sequencing
    08 A new approach for identifying mutations in the KRAS/BRAF genes will be developed for the effective diagnosis of metastatic colorectal cancer
    09 A thermostable RNA-dependent and DNA-dependent polymerase will be obtained for the molecular and genetic detection of pathogens of urogenital infections
    10 The development of a test system based on real-time PCR will ensure the detection of pathogens of Lyme disease (Borrelia burgdorferi sensu lato) and tick-borne relapsing fever (Borrelia miyamotoi)
    11 DNA barcoding and high-throughput sequencing technologies will be implemented for herbal medicine authentication used in pediatric practice
    12 At least 9 (nine) articles and (or) reviews have been published in peer-reviewed scientific journals that are in the 1st (first), 2nd (second) and (or) 3rd (third) quartiles by impact-factor in the Web of Science database and (or) having a CiteScore percentile in the Scopus database of at least 50 (fifty). At least 10 (ten) articles in journals recommended by the SHEQAC (Science and Higher Education Quality Assurance Committee), and at least 1 (one) monograph recommended by the academic council of the applicant’s organization. At least 5 (five) intellectual property objects (patents or copyright certificates in the field of information technology) have been registered with the National Institute of Intellectual Property of the Republic of Kazakhstan)

    About program executors

    LLP “National Center for Biotechnology”
    The branch of LLP “National Center for biotechnology” in Almaty

    Head of program

    h-Index - 11

    TARLYKOV PAVEL VIKTOROVICH

    Ph.D., Associate Professor

    Specialist in the field of genomics, proteomics and mass spectrometry, the author of more than 100 scientific papers, Hirsch index - 11 (Scopus). Studied in the master’s program “Bolashak” (USA, Montana State University, 2007-2009). Scholarship holder of the World Federation of Scientists (Switzerland, 2010). COmpleted internships in France (Institute Gustave-Roussy, 2011-2012), Russia (“Medical and Genetic center of N.P. Bochkov”, 2012).

    Responsible executors

    Aleksandr Shevtsov

    Candidate of Biological Sciences, Associate Professor

    Head of the Laboratory of Applied Genetics of the NCB

    h-Index - 11

    Elena Zholdybaeva

    Candidate of Biological Sciences, Associate Professor

    Head of the National Scientific Shared Laboratory of Biotechnology of the NCB

    h-Index - 11

    Gulmira Kulmambetova

    PhD in Biology, Associate Professor

    Leading Researcher at the National Scientific Shared Laboratory of Biotechnology of the NCB

    h-Index - 3

    Arman Kulyyasov

    Candidate of Chemical Sciences/h3>

    Chief Researcher of the Laboratory of Proteomics and Mass Spectrometry of the NCB

    h-Index - 10

    Kanatbek Mukantayev

    Doctor of Biological Sciences, Associate Professor

    Head of the Laboratory of Immunochemistry and Immunobiotechnology of the NCB

    h-Index - 5

    Sailau Abeldenov

    PhD

    Head of the Laboratory of Molecular Biotechnology of the NCB

    h-Index - 4

    Ostapchuk Ekaterina

    PhD, Associate Professor

    Head of the Laboratory of Immunology and Immunobiotechnology of the NCB branch in Almaty

    h-Index - 10

    Bekbolat Khassenov

    Candidate of Chemical Sciences, professor in the specialty "Biological Sciences"

    Head of the Laboratory of Genetics and Biochemistry of Microorganisms of the NCB

    h-Index - 9

    Oksana Hapilina

    Candidate of Biological Sciences

    Head of the Laboratory of Plant Genomics and Bioinformatics

    h-Index - 5

    Publications

    1. Kulyyassov A., Makhsatova S., Kurmanbay A. Protein Identification Improvement in Complex Samples Using Higher Frequency MS Acquisition and PEAKS Software // Applied Sciences. ‒ 2025. ‒ Vol.15, №2. ‒ P.666 Q1. DOI: 10.3390/app15020666
    2. Turzhanova A., Kubentayev S., Magzumova S., Sarkytbayeva A., Khapilina O. The impact of local environmental differences on the phenotypic plasticity and genetic variation of Kazakhstani populations of Paeonia anomala // Frontiers in Ecology and Evolution. ‒ 2025. ‒ Vol.13. DOI: 10.3389/fevo.2025.1608776
    3. Kalendar R. Comprehensive web-based platform for advanced PCR design, genotyping, synthetic biology, molecular diagnostics, and sequence analysis // Molecular Therapy Nucleic Acids. ‒ 2025. ‒ Vol.36, №4. DOI: 10.1016/j.omtn.2025.102716
    4. Konarbayeva A., Atavliyeva S., Auganova D., Tarlykov P. Genotype–phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review // Human Genomics. ‒ 2026. DOI: 10.1186/s40246-026-00975-2
    5. Toleuzhanova A., Zholdybayeva E., Eslamgalieva E., Svyatova G., Akhmetollayeva A. A 6-year-old Kazakh Girl Presenting with Hyperglycemia Due to Maturity-Onset Diabetes of the Young (MODY) Associated with Mutation in the HNF1A Gene // American Journal of Case Reports. ‒ 2026. DOI: 10.12659/AJCR.951678
    6. Basharova D., Bekbayeva A., Svyatova G., Darmeshova A., Zholdybayeva E. Case Report: A Canonical Splice-Site COL4A5 Variant in Alport Syndrome in a Kazakhstani Family // Current Issues in Molecular Biology. ‒ 2026. ‒ Vol.48, №6. ‒ P.588. DOI: 10.3390/cimb48060588
    7. Turzhanova A., Magzumova S., Khapilina O. Assessment of the effectiveness of ITS markers in DNA barcoding of Betula species in the Kazakh Altai // BULLETIN of the L.N. Gumilyov Eurasian National University. BIOSCIENCE Series. ‒ 2025. ‒ Vol.150, №1. ‒ P.7–21. DOI: 10.32523/2616-7034-2025-150-1-7-21
    8. Mukantayev K., Tursunov K., Adish Z., Tarlykov P. Immunochromatographic Analysis: Assessment and Prospects for Application in the Diagnosis of Rotavirus and Adenovirus Infections // Eurasian Journal of Applied Biotechnology. ‒ 2025. ‒ №3. ‒ P.165–174. DOI: 10.11134/btp.3.2025.18
    9. Mussakhmetov A., Akishev Z., Khassenov B. Production of Modified RNA-Dependent DNA Polymerase of Human Immunodeficiency Virus for Use as Reverse Transcriptase // Eurasian Journal of Applied Biotechnology. ‒ 2025. ‒ №3. ‒ P.137–146. DOI: 10.11134/btp.3.2025.15
    10. Дмитровский А., Сыздыков М., Адил А., Бисенбай А., Кулигин А., Оспанбекова Н., Остапчук Е. К вопросу о стандартном определении случая клещевых возвратных лихорадок // Актуальные проблемы теоретической и клинической медицины. ‒ 2025. ‒ №4. ‒ P.137–148. DOI: 10.64854/2790-1289-2025-50-4-10
    11. Башарова Д.А., Святова Г.С., Бекбаева А., Дармешова А., Жолдыбаева Е.В. Генетические особенности у детей с подозрением на синдром Альпорта: результаты полноэкзомного секвенирования // Astana Medical Journal. ‒ 2025. ‒ Vol.125, №6. ‒ P.1–19. DOI: 10.54500/2790-1203-2025-6-125-amj007
    12. Конарбаева А.А., Тарлыков П.В. Современные методы диагностики лизосомных болезней накопления // Eurasian Journal of Applied Biotechnology. ‒ 2026. ‒ №1. ‒ P.3–15. DOI: 10.11134/btp.1.2026.1
    13. Каиржанова А.Д., Камалова Д.К., Ахметова А.Е., Баянова М.Ф., Филипенко М.Л., Шевцов А.Б. Разработка и валидация таргетного метода секвенирования по Сэнгеру для молекулярной диагностики фенилкетонурии // Astana Medical Journal. ‒ 2026. ‒ Vol.126, №2. ‒ P.1–12. DOI: 10.54500/2790-1203-2026-2-126-amj009

    Achieved Results

    The following activities were carried out as a result of the program implementation

    2024

    01 Design of a primer panel for amplification of target regions of the genes PAH, HNF4A, GCK, HNF1A, IPF1/PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1, WSF1, COL4A3, COL4A4, COL4A5, COL4A6 and their synthesis. Beginning of the formation of a collection of control samples for practicing the conditions of targeted sequencing and detection of mutations in patients with an established diagnosis of phenylketonuria, MODY diabetes and unspecified subtype, Alport syndrome. Analysis and formation of a study group on colorectal cancer according to the criteria
    02 Review of existing methods for diagnosing Gaucher disease based on mass spectrometry and other high-precision methods. Patent information search for methods of sample preparation and biomarkers of BSC. Optimization of the method of immunodepletion of blood plasma of experimental animals to remove the main proteins
    03 Design and synthesis of adenovirus type 3 hexon and rotavirus VP4 antigen genes. Obtaining expression genetic constructs carrying the adenovirus type 3 hexon gene and the rotavirus VP4 antigen gene. Collection and identification of DNA from antibiotic-resistant A. baumanii isolates. Formation of a DNA collection of A. baumanii isolates. Conduct a patent search and design primers and fluorescent probes to identify specific regions of the genomic DNA of B. burgdorferi s.l. and B. miyamatoi. Synthesize and purify primers and fluorescent probes. Conduct verification PCR with archival samples of bacteria
    04 Bioinformatic analysis of amino acid sequences of reverse transcriptases and determination of the optimal enzyme sequence. Cloning of the reverse transcriptase gene as part of an expression vector. Compilation of annotated lists of medicinal plants, preparations based on plant raw materials, and finished dosage forms of herbal preparations approved for use in official and traditional medicine in the territory of the Republic of Kazakhstan

    2025

    01 Primer performance was tested, and PCR reaction conditions for amplifying target gene regions were optimized. Biomaterial was collected from apparently healthy individuals, as well as patients diagnosed with phenylketonuria, MODY diabetes, Alport syndrome, colorectal cancer, and Gaucher disease
    02 KRAS/BRAF mutation screening was conducted
    03 An optimized plasma immunodepletion technique was used in experimental animals
    04 A recombinant adenovirus type 3 hexon was obtained, and purification conditions were developed
    05 The composition of the reaction mixture for the test systems was developed and optimized
    06 A producer strain was obtained, and recombinant reverse transcriptase was synthesized in E. coli cells
    07 Universal primers were selected for amplifying genetic markers used in plant DNA barcoding
    08 Genetic markers of antibiotic resistance were identified

    Additional Information

    Funding Source

    The research was funded by the Science Committee of the Ministry of Science and Higher Education of the Republic of Kazakhstan (НТП BR24992881)

Achieved Results

The following activities were carried out as a result of the program implementation

2024

01 Design of a primer panel for amplification of target regions of the genes PAH, HNF4A, GCK, HNF1A, IPF1/PDX1, HNF1B, NEUROD1, KLF11, CEL, PAX4, INS, BLK, ABCC8, KCNJ11, APPL1, WSF1, COL4A3, COL4A4, COL4A5, COL4A6 and their synthesis. Beginning of the formation of a collection of control samples for practicing the conditions of targeted sequencing and detection of mutations in patients with an established diagnosis of phenylketonuria, MODY diabetes and unspecified subtype, Alport syndrome. Analysis and formation of a study group on colorectal cancer according to the criteria
02 Review of existing methods for diagnosing Gaucher disease based on mass spectrometry and other high-precision methods. Patent information search for methods of sample preparation and biomarkers of BSC. Optimization of the method of immunodepletion of blood plasma of experimental animals to remove the main proteins
03 Design and synthesis of adenovirus type 3 hexon and rotavirus VP4 antigen genes. Obtaining expression genetic constructs carrying the adenovirus type 3 hexon gene and the rotavirus VP4 antigen gene. Collection and identification of DNA from antibiotic-resistant A. baumanii isolates. Formation of a DNA collection of A. baumanii isolates. Conduct a patent search and design primers and fluorescent probes to identify specific regions of the genomic DNA of B. burgdorferi s.l. and B. miyamatoi. Synthesize and purify primers and fluorescent probes. Conduct verification PCR with archival samples of bacteria
04 Bioinformatic analysis of amino acid sequences of reverse transcriptases and determination of the optimal enzyme sequence. Cloning of the reverse transcriptase gene as part of an expression vector. Compilation of annotated lists of medicinal plants, preparations based on plant raw materials, and finished dosage forms of herbal preparations approved for use in official and traditional medicine in the territory of the Republic of Kazakhstan

Additional Information

Funding Source

The research was funded by the Science Committee of the Ministry of Science and Higher Education of the Republic of Kazakhstan (НТП BR24992881)