Research Centre for Medical Genetics
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The 42nd European Cystic Fibrosis Conference was held in Liverpool (UK) on 4-8 June, 2019

More than 2500 specialists from Europe, Africa and America attended the Conference. Seven researchers from FSBI Bochkov RCMG participated in the Conference: Kondratyeva E.I., Head of the Research and Clinical Cystic Fibrosis Department, Sherman V.D., Voronkova A.Yu., Zhekayte Ye.K., Krasovsky S.A., researchers at the Department of Cystic Fibrosis, Kashirskaya N.Yu., Chief researcher of the Genetic Epidemiology Department, Smirnikhina S.A., Head of the Genome Editing Laboratory.

The Conference program included one oral presentation (Kashirskaya N.Yu.), 5 reports (Kondratyeva E.I. (2), Kashirskaya N.Yu. (1), Zhekaite E.K. (1), Smirnikhina S.A. (1)) and 22 poster reports. Kashirskaya N.Yu. was a moderator of one of the registers of epidemiology and cystic fibrosis symposia - S23 «Some are more equal than others: tackling inequity in cystic fibrosis».  

Kondratyeva E.I. made a presentation on genetic factors effected vitamin D deficiency and its clinical manifestations in winter season – “Vitamin D deficiency in patients from three regions of the Russian Federation” (authors Kondratyeva E.I., Ilyenkova N.A., Klimov L.Ya. Zhekaite E.K., Chikunov V.V., ShermanV.D, Melyanovskaya Yu.L., Petrova N.V., Dolbnya S.V.).

Report on pharmacokinetics of amoxicillin in children with cystic fibrosis. (Age peculiarities of amoxicillin pharmacotherapy in children with cystic fibrosis. E. Kondratyeva, V. Shadrina, Y. Kondakova, S. Zyryanov, I. Bondarev4, V. Sherma2, Y. Melyanovskaya received an educational grant from the European Cystic Fibrosis Society (ECFS)).

Zhekaite E.K. made a presentation on ecological factors, age and taking prophylactic doses of cholecalciferol effected Vitamin D deficiency – «Vitamin D status in children with cystic fibrosis in the Russian Federation in the winter season» (authors Zhekaite E.K., Kondratyeva E.I., Ilyenkova N.A., Klimov L.Ya. Chikunov V.V., ShermanV.D, Melyanovskaya Yu.L., Petrova N.V., Dolbnya S.V.).

Kashirskaya N.Yu. reported on the results of the first use of intestinal organelles and forskolin test in the Russian Federation, introduced in the Stem Cell Genetics Laboratory – “The investigation of VX-809 and VX-770 effects on CFTR channel function in c.[4262T>A];[1521_1523delCTT] (V1421E/F508del) genotype using an intestinal organoid culture” (authors Efremova A.S., Kashirskaya N.Y., Bukharova Т.B., Bulatenko N.V., Petrova N.V., Zhekaite E.K., Kondratyeva E.I., Zinchenko R.A., Goldshtein D.V., Kutsev S.I.),

Smirnikhina S.A. presented the results of F508del correction using method of genomic editing in the induced pluripotent stem cells of patients with cystic fibrosis. “F508del correction in iPSCs obtained from patient with cystic fibrosis by CRISPR/Cas9” (authors: S. Smirnikhina, A. Anuchina, E. Adilgereyeva, E. Amelina, E. Kondratyeva, K. Ustinov, M. Yasinovsky, K. Kochergin-Nikitsky, M. Zainitdinova, I. Mozgovoy, A. Lavrov).

In their 22 poster reports, the Cystic Fibrosis Department team presented the results of research on antibacterial agents pharmacokinetics, genetic features of cystic fibrosis in the Russian Federation, and a description of rare mutations (together with the Genetic Epidemiology Department and the DNA-diagnostics Laboratory), analysis of the results of “Monitoring of nutritional status, diet and enzyme therapy with cystic fibrosis” program (State Registration of FIPS No. 2016660762 dated 09/21/16), developed by the Department team.

Kondratyeva E.I. and Kashirskaya N.Yu. attended the meeting of neonatal screening group of the European Cystic Fibrosis Society (ECFS). Kondratyeva E.I. participated in the meeting of the ECFS diagnostic group, Kashirskaya N. Yu. - in the Meeting of the ECFS Therapy Standards Group Board.

The Conference participants responsible for the national registry of cystic fibrosis met with the Board of the European Registry Group for completing a new version of the CF Tracker 2 register and the medical record. Kashirskaya N.Yu. took part in the meeting of the Board of the Cystic Fibrosis Patients Group of the European Cystic Fibrosis Society (ECFS).

Vasina E.V., kinesitherapist of the Cystic Fibrosis Department attended the Conference master class. Zhekaite E.K participated in the ECFS DNWG Sweat Testing Training Seminar “Practical aspects of improving CF diagnostics in Europe” (with the support of EliTechGroup)

http://nczd.ru/42-ezhegodnaja-konferencija-evropejskogo-soobshhestva-po-mukoviscidozu-ecfs/