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Genotype verification of cystic fibrosis patients as a major step towards precision Orkambi therapy
https://doi.org/10.25557/2073-7998.2022.09.65-68
Abstract
Cystic fibrosis is one of the most common genetic diseases not only in Russia but in the world, it dramatically reduces lifespan and quality of life in the absence of effective treatment. In a time of cystic fibrosis precision therapy, the effective treatment is based on the exact genotype determination. However, the diagnostic search should not always be finished when two pathogenic variants in CFTR gene are detected. In recent years there has been an explosive growth of research studies dedicated to, so-called, complex alleles, - the presence of two or more variants in the cis-position, which may affect in a dramatic way a therapeutic response. The study was aimed to determine the frequency of a complex allele p.[L467F;F508del], that affects the response to lumacaftor/ivacaftor (Orkambi) in cystic fibrosis Russian patients, being homozygous for F508del .
About the Authors
V. A. Kovalskaia
Research Centre for Medical Genetics
Russian Federation
Russian Federation
T. A. Adyan
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
E. I. Kondratyeva
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. V. Polyakov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
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Review
For citations:
Kovalskaia V.A., Adyan T.A., Kondratyeva E.I., Polyakov A.V. Genotype verification of cystic fibrosis patients as a major step towards precision Orkambi therapy. Medical Genetics. 2022;21(9):65-68. (In Russ.) https://doi.org/10.25557/2073-7998.2022.09.65-68
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