Meeting of the Cystic Fibrosis Society Diagnostic Network Working Group

February 6-8, 2020. The 17TH annual meeting of the European Cystic Fibrosis Society Diagnostic Network Working Group took place in Utrecht (the Netherlands). 

104 participants of 53 countries have joined the Group by 2020.

The meeting discussed the use of standard methods for Cystic Fibrosis diagnosis (neonatal screening, sweat test) in clinical practice and methods characterizing functional activity of the chlorine channel (the CFTR protein work) (determining the difference between nasal and intestinal potentials, the use of intestinal organoids). Collaboration of our doctors with the laboratories of Hugo de Jonge (Rotterdam), Jeffrey Beckmann (Utrecht) and Elke De Wote (Belgium) made it possible to visit Prof. Jeffrey Beckman, meet colleagues and learn their practices and techniques.

The Russian Federation researchers and doctors of the FSBI RCMG Cystic Fibrosis Research and Clinical Department (Head is Prof. E. Kondratyeva) and the FSBI RCMG Genetic Epidemiology Laboratory (Head is Prof. R. Zinchenko.) E.I. Kondratyeva, N.Yu. Kashirskaya, Yu.L. Melyanovskaya, and A.E. Zodbinova attended the Group.

Yu.L. Melyanovskaya made a presentation: "Study of the function of the chloride channel in patients with cystic fibrosis with the genetic variant E92K of the CFTR gene in the genotype."

The work aroused great interest. A discussion focused on issues related to new approaches to assessing CFTR protein disorders in cystic fibrosis and determining the class of mutations.

https://www.ecfs.eu/ecfs_dnwg/news
https://www.ecfs.eu/news/save-date-17th-annual-ecfs-dnwg-utrecht-netherlands-6-8-february-2020
https://www.ecfs.eu/news