Preview

Yakut Medical Journal

Advanced search

Introduction of genetic technologies into the practical healthcare of Yakutia on the example of spinocerebellar ataxia type 1 in the context of translational medicine

https://doi.org/10.25789/YMJ.2022.79.26

Abstract

The article summarizes the history of scientific research translation into the practical healthcare in the Republic of Sakha (Yakutia) on the example of spinocerebellar ataxia type 1, the most common hereditary disease in the Yakut population.

In the duration of twenty years, translational medicine has developed in Yakutia, approaches to personalized medicine are being developed and the use of genomic technologies has become a reality of our time.

About the Author

S. K. Kononova
Yakut Scientific Center of Complex Medical Problems
Russian Federation

Kononova Sardana Kononovna – Candidate of Biological Sciences, chief researcher, department head 



References

1. Bioethical problems of the presymptomatic DNA diagnosis of spinocerebellar ataxia type1 in the practice of medical-genetic consultation in Yakutia / S.K. Kononova, O.G. Sidorova, A.L. Sukhomyasova, E.K. Khusnutdinova // Medical genetics.2005. – No.12. – P. 583-588.

2. Introduction of routine DNA diagnostics of hereditary monogenic diseases in the Republic of Sakha (Yakutia) / S.K.Kononova, S.A.Fedorova, V.L.Izhevsk [et al.] // Bulletin of NEFU. 2012. – V. 9. – No. 4. – P. 21-26.

3. Glick B., Pasternak J. Molecular biotechnology. Principles and application. Translated from English – M.: Mir, 2002. - 589 p.

4. Differential diagnosis of Vilyuisk encephalomyelitis: The study of hereditary cerebellar ataxia in Yakutia / G.L. Zubri, L.G. Goldfarb, P.A. Petrov [et al.] //Actual Problems of Virology and Prevention of Viral Diseases. Moscow: USSR Academy OF Medical Sciences.1972. – P. 201- 210.

5. Medical-genetic service to the population of the Republic of Sakha (Yakutia) / A.N. Nogovitsyna, N.R. Maksimova, A.L. Sukhomyasova [et al.] // Yakut Medical Journal. – 2014. – No. 2 (46). – P. 6-11

6. Molecular genetic methods of diagnosis of monogenic diseases in the Republic of Sakha (Yakutia) / S.K. Stepanova, V.A. Zakharova, E.V. Tapyev // Genetic studies of the population of Yakutia. Edited by V.P.Puzyrev, M.I. Tomsky. Yakutsk: CIP NBR Sakha, 2014. – P. 233-245.

7. Hereditary cerebellar ataxia in Yakutia / G.L. Zubri, L.G. Goldfarb, A.P. Savinov [et al.] // Proceedings of the First All-Union Conference on Medical Genetics. Moscow: USSR Academy OF Medical Sciences.1975. – P. 60-62.

8. Organizational, methodological and ethical problems of DNA diagnostics of monogenic diseases in the practice of medical-genetic consultation in Yakutia / S.K. Kononova, S.A. Fedorova, S.K. Stepanova [et al.] // Mat. All-Russian Scientific and Practical conference "Molecular genetic diagnostics of monogenic diseases: opportunities and prospects". Medical genetics. – 2006. – V.5. – P.14-17.

9. The experience of creating a specialized medical care center for patients with neurodegenerative diseases on the basis of a clinic of a scientific institution / T.K. Davydova, S.K. Kononova, O.G. Sidorova [et al.] // Yakut Medical Journal. - 2020. – No. 4(72). P. 53-57. [ DOI 10.25789/YMJ.2020.72.14.]

10. Prenatal diagnostics in the Republic of Sakha (Yakutia) / L.V. Gotovtseva, A.L. Sukhomyasova, T.Y. Pavlova [et al.] // Yakut Medical Journal. - 2014. - No. 2(46): 53-56.

11. Problems of prenatal medical-genetic counseling of monogenic diseases with dynamic mutations in Yakutia / O.G. Sidorova, S.K. Kononova, A.L. Sukhomyasova, E.K. Khusnutdinova // Yakut Medical Journal. – 2007. – No. 1(17). – P. 33-35.

12. Palsev M.A., Belushkina N.N. Translational medicine – a new stage in the development of molecular medicine / M.A. Fingers, N.N. Belushkina // Molecular Medicine. – 2012. – No. 4. – P. 3-6.

13. Diversity of hereditary pathology in the Republic of Sakha (Yakutia) according to the Republican Genetic Register of Hereditary and Congenital Pathology/ AL Sukhomiysova, NR Maksimova, AN Nogovitsina [et al] // Genetic studies of the population of Yakutia. – 2014. – P. 78-85.

14. Prevalence of spinocerebellar ataxia type 1 in Yakutia: current state / A.I. Fedorov, A.L. Sukhomyasova, P.I. Golikova [et al.] // Medical genetics. – 2020. – V. 19. – No. 7(216). – P. 29-30 (in Russ.) [DOI 10.25557/2073-7998.2020.07.29-30.]

15. Spinocerebellar ataxia of the first type in Yakutia: prevalence and clinical and genetic comparisons/ F.A. Platonov, S.N. Illarioshkin, S.K. Kononova [et al.] //Medical genetics.- 2004. – V. 3, No. 5. – P. 242-248.

16. Shcherbo, S.N. Translational medicine / S.N. Shcherbo // Medical Alphabet. – 2012. – V. 2. –No.10. – P. 5-6

17. Ethical aspects of prenatal diagnosis of late-manifesting hereditary diseases with dynamic mutations/ S.K. Kononova, O.G. Sidorova, S.K. Stepanova [et al.] // Medical Genetics.- 2010. – V.9. – No. 9 (99). – P.10-15.

18. Finley Austin M.J. and Thane Kreiner Integrating genomics tecnologies in health care: practice and policy challenges and opportunities// Phisiol Genomics.- 2002.-Vol.8.-P33-40.

19. Fletcher J.C., Berg K., Tranoy K.E. Ethical aspects of medical Genetics. A proposal for guidelines in genetic counseling, prenatal diagnosis and screening// Clinical Genetics.- 1985.- Vol.27.- P.199-205.

20. Frank A.L. Ethical and practical aspects of human studies// Mutation Research.-2001.- Vol.480.-P.333-336.

21. Gyngell C, Bowman-Smart H, Savulescu J. Moral reasons to edit the human genome: picking up from the Nuffield report. J Med. 2019 ; 45 (8):514-523. doi: 10.1136/medethics-2018-105084.

22. Ginsburg G.S., Willard H.F. Genomic and personalized medicine: foundations and applications. Trans. Res., 2009, 54, 6, 277–87

23. Goldfarb L.G., Vasconcelos O., Platonov F.A. et al. Unstable Triplet Repeat and Phenotypic Variability of Spinocerebellar Ataxia Type 1 // Ann. Neurol.- 1996.- Vol.39.-№ 4.-P.500-506.

24. International HapMap Consortium. The International HapMap Project. Nature. 2003 Dec 18;426(6968):789-96. doi: 10.1038/nature02168.

25. Jackson, D.A., Symons, R.H. and Berg, P., “Biochemical method for inserting new genetic information into DNA of Simian Virus 40: circular SV40 DNA containing lambda phage genes and the galactose operon of Escherichia coli,” Proc. Nat. 1972.Р.2904-2909.

26. Kononova S.K., Fedorova S.A., Khusnutdinova E.K. Bioethical aspects of genetics and genomics in Yakut (Siberia) // Genomics and Health in the Developing World. -2012. -P. 1426-1430. [ DOI: 10.1093/med/9780195374759.001.0001 EDN: YXSXDV]

27. Leonard Debra G.B. The future of molecular genetic testing// Clinical Chemistry.-1999.-Vol.45.-P.726-731.

28. Lindahl R., Jonson V.P. Molecular medicine: a primer for clinicians-PartVI: Introduction to genetic testing// SDJ Med.-1994.- Vol.47(11):392-5.

29. Lunkes A., Goldfarb L.G., Platonov F.A. et al. Autosomal dominant spinocerebellar ataxia (SCA) in a Siberian Founder Population: assignment to the SCA1 locus// Experimental neurology.-1994.-Vol.126.-P.310-312.

30. Moldrup C. Ethical, Social and Legal Implications of Pharmacogenomics: A Critical Review//Community Genetics.-2001.-Vol.4(4).-P. 204-214.

31. Newitt R, Barnett F, Crowe M. Understanding factors that influence participation in physical activity among people with a neuromusculoskeletal condition: a review of qualitative studies// Disabil Rehabil. 2016;38(1):1-10. [ doi: 10.3109/09638288.2014.996676.]

32. Renzong Q. Human genome and philosophy: what ethical challenge will human genome studies bring to the medical practices in the 21st century? //CRAcad.Sci.III, 2001.-Vol. 324(12).- P.1097-102.

33. Orr H.T., Chang M.-Y., Banfi S. et al. Expansion of an unstable trinukleotide CAG repeat in spinoserebellar ataxia type 1// Nature Genet.- 1993.-Vol.4.-P.221-226.


Review

For citations:


Kononova S.K. Introduction of genetic technologies into the practical healthcare of Yakutia on the example of spinocerebellar ataxia type 1 in the context of translational medicine. Yakut Medical Journal. 2022;(3):103-107. https://doi.org/10.25789/YMJ.2022.79.26

Views: 17


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 1813-1905 (Print)
ISSN 2312-1017 (Online)