DNA-based diagnostics of hereditary diseases of the respiratory tract
https://doi.org/10.18093/0869-0189-2024-34-2-151-157
Abstract
The diagnosis of orphan lung diseases often requires specific tests, and treatment is difficult due to problems in understanding the mechanisms of disease development and low incidence. When a therapy is developed, it is very expensive.
The aim of the article was to present modern approaches for the genetic diagnosis of hereditary respiratory diseases.
Conclusion. A physician of any specialty can encounter an orphan disease in clinical practice. The emergence of new methods for the maintenance and targeted therapy of orphan lung diseases necessitates allertness of both pediatric and adult pulmonologists. Competent management of such patients requires knowledge of the basics of genetics and the modern possibilities of DNA diagnostics, as well as close interdisciplinary cooperation between physicians of different specialties and laboratories.
Supporting agencies: The work was carried out within the state assignment for the Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
About the Authors
S. I. Kutsev
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation
Russian Federation
Sergey I. Kutsev, Doctor of Medicine, Professor, Academician of the Russian Academy of Sciences, Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation; Chief Freelance Specialist in Medical Genetics of the Ministry of Health of the Russian Federation
ul. Moskvorechye 1, Moscow, 115522
O. A. Shchagina
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation
Russian Federation
Ol’ga A. Shchagina, Candidate of Medicine, Head of the Laboratory of Mo- lecular Genetic Diagnostics No.1, Leading Researcher, Laboratory of DNA Diagnostics, Associate Professor, Department of Molecular Genetics and Bioinformatics, Institute of Higher and Additional Professional Education
ul. Moskvorechye 1, Moscow, 115522
Yu. L. Melyanovskaya
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation
Russian Federation
Yuliya L. Mel’yanovskaya, Researcher, Scientific and Clinical Department of Cystic Fibrosis
ul. Moskvorechye 1, Moscow, 115522
E. I. Kondratyeva
Federal State Budgetary Scientific Institution “Research Centre for Medical Genetics”, Ministry of Science and Higher Education of the Russian Federation
Russian Federation
Russian Federation
Elena I. Kondratyeva, Doctor of Medicine, Professor, Head of the Scientific and Clinical Department of Cystic Fibrosis, Head of the Department of Genetics of Respiratory System Diseases, Institute of Higher and Additional Professional Education
ul. Moskvorechye 1, Moscow, 115522
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For citations:
Kutsev S.I., Shchagina O.A., Melyanovskaya Yu.L., Kondratyeva E.I. DNA-based diagnostics of hereditary diseases of the respiratory tract. PULMONOLOGIYA. 2024;34(2):151-157. (In Russ.) https://doi.org/10.18093/0869-0189-2024-34-2-151-157
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