Relevance of the scientific project

The idea of the project is to create molecular genetic prerequisites for the introduction of innovative measures in the early diagnosis of congenital spinal deformity. Whole exome sequencing of family quartets will be used: proband – a child with congenital spinal deformity, healthy parents and a sibling (brother or sister). For the first time, a search for pathogenic mutations will be carried out in connection with the progressive course of the pathology in children with congenital spinal deformity from Kazakh families. The project is aimed at solving the problem of disability in the child population associated with late diagnosis of congenital spinal deformity, which increases the risk of neurological and other complications. The project will provide new fundamental scientific knowledge in the field of genetics of the occurrence of congenital spinal deformity.

Purpose of the project

Search for pathogenic mutations in children with congenital spinal deformity in Kazakh families using whole exome sequencing.

Expected results

A unique DNA collection will be collected from Kazakh children with congenital spinal deformity, as well as from their healthy parents and siblings as a control group. The main result of the project will be a list of new pathogenic mutations in children with congenital spinal deformity in Kazakh families, detected using whole exome sequencing, annotated by bioinformatics analysis and validated by Sanger sequencing.

Principal investigator (PI)

Надиров Нурбек Надирович, MD, PhD

Scopus Author ID: 57193275711

Research team members

Жабагин Максат Кизатович, PhD, ассоциированный профессор

Scopus Author ID: 56590111900

Сейдуалы Мәдина Жұмабекқызы, MSc

Scopus Author ID: 57215053453

Букаева Аягоз Талгаткызы, MSc

Publications of PI and Research team related to the Project

1. Nadirov N, Vissarianov S. A Comparative Study of Surgical Correction of Idiopathic Scoliosis With Spinal Transpedicular Metal Structures in Children. Front Pediatr. 2022 May 16;10:871117. doi: 10.3389/fped.2022.871117. PMID: 35652059; PMCID: PMC9149250. (Web of Science Rank by Journal Impact Factor 2021 – Category: Pediatrics – Q2)
2. Nadirov N, Vissarionov S, Filippova A, Kokushin D, Sazonov V. The results of surgical treatment of preschool and primary school age children with congenital deformation of the spine in isolated hemivertebra: Comparative analysis. Front Pediatr. 2022 Sep 9;10:960209. doi: 10.3389/fped.2022.960209. PMID: 36160786; PMCID: PMC9500183. (Web of Science Rank by Journal Impact Factor 2021 – Category: Pediatrics – Q2)
3. Nadirov N.N., Belyanchikov S.M., Kokushin D.N., Murashko V.V., Kartavenko K.A. Surgical correction of spinal deformity with the use of transpedicular screw spinal systems in children with idiopathic thoracic scoliosis // Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. – 2016. – Vol. 4. – N. 2. – P. 37-44. doi: 10.17816/PTORS4237-44. (Scopus CiteScore 2021 – Category: Medicine – 19 Percentile)
4. Vissarionov S.V., Nadirov N.N., Belyanchikov S.M., Kokushin D.N., Murashko V.V., Kartavenko K.A. Surgical treatment of children with idiopathic thoracolumbar scoliosis using transpedicular spinal systems // Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. – 2015. – Vol. 3. – N. 3. – P. 15-20. doi: 10.17816/PTORS3315-20. (Scopus CiteScore 2021 – Category: Medicine – 19 Percentile)
5. Vissarionov S.V., Kokushin D.N., Belyanchikov S.M., Murashko V.V., Kartavenko K.A., Nadirov N.N. surgical treatment of children with idiopathic scoliosis of Lenke type I with the use of total transpedicular fixation // Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. – 2014. – Vol. 2. – N. 2. – P. 3-8. doi: 10.17816/PTORS223-8 (Scopus CiteScore 2021 – Category: Medicine – 19 Percentile)
6. Seidualy M, Blazyte A, Jeon S, Bhak Y, Jeon Y, Kim J, Eriksson A, Bolser D, Yoon C, Manica A, Lee S, Bhak J. Decoding a highly mixed Kazakh genome. Hum Genet. 2020 May;139(5):557-568. doi: 10.1007/s00439-020-02132-8. (Web of Science Rank by Journal Impact Factor 2021– Category: Genetics & Heredity– Q1)
7. Kairov U, Molkenov A, Sharip A, Rakhimova S, Seidualy M, Rhie A, Kozhamkulov U, Zhabagin M, Kim JI, Lee JH, Terwilliger JD, Seo JS, Zhumadilov Z, Akilzhanova A. Whole-Genome Sequencing and Genomic Variant Analysis of Kazakh Individuals. Front Genet. 2022 Jul 11;13:902804. doi: 10.3389/fgene.2022.902804. (Web of Science Rank by Journal Impact Factor 2021 – Category: Genetics & Heredity– Q1)
8. Balanovska E.V., Zhabagin M.K., Agdzhoyan A.T., Chukhryaeva M.I., Markina N.V., Balaganskaya O.A., Skhalyakho R.A., Yusupov Y.M., Utevska O.M., Bogunov Y.V., Asilguzhin R.R., Dolinina D.O., Kagazezheva Z.A., Damba L.D., Zaporozhchenko V., Romanov A.G., Dibirova K.D., Kuznetsova M.A., Lavryashina M.B., Pocheshkhova E.A., Balanovsky O.P. Population biobanks: Organizational models and prospects of application in gene geography and personalized medicine // Russian Journal of Genetics. – 2016. – Vol. 52, – N. 12, – P. 1227-1243. doi: 10.1134/S1022795416120024 (Web of Science Rank by Journal Impact Factor 2021 – Category: Genetics & Heredity– Q4)

Results achieved

2023

DNA samples were collected from Kazakh children with congenital spinal deformities, as well as from their healthy parents and siblings, totaling 16 samples. Whole-exome sequencing was performed for all 16 samples. Bioinformatics analysis was conducted for the 16 samples.