Research Centre for Medical Genetics
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On February 18, 2022, an online conference "The Experience of Organizing Care for Patients with Cystic Fibrosis in Russia and Kazakhstan" was held

On February 18, 2022, the staff of the Scientific and Clinical Department of Cystic Fibrosis of the Research Centre for Medical Genetics held an online conference "The Experience of Organizing Care for Patients with Cystic Fibrosis in Russia and Kazakhstan."

The conference was moderated by Professor Elena Kondratyeva, Head of the Scientific and Clinical Department of Cystic Fibrosis of the Research Centre for Medical Genetics, Head of the Department of Genetics of Respiratory System Diseases of the Institute of Higher and Additional Professional Education of the Research Centre for Medical Genetics. Elena Marshalkina, Chief external pediatric pulmonologist of Kazakhstan represented the country at the conference.

Professor Elena Kondratyeva spoke about the possibilities of diagnostics of cystic fibrosis in the Russian Federation. She also spoke about and the cystic fibrosis center of the Research Institute of Childhood (which is the clinical base of the Research Centre for Medical Genetics), as well as the experience of maintaining the Registry and the results of the treatment of cystic fibrosis.

“Currently, all the technologies developed in the world for diagnosing cystic fibrosis are implemented in the Russian Federation by the subdivisions of the Research Centre for Medical Genetics. They include: a three-step DNA diagnostics, all types of sweat tests, a method for determining the difference in intestinal potentials and a forskolin test made on intestinal organoids and used for personalized selection of targeted drugs. Moreover, 1,300 children and adolescents in the Russian Federation are currently receiving CFTR modulators or will start receiving them in the first half of 2022,” said Elena Kondratyeva.

A significant part of the conference was devoted to answering the questions of doctors from Kazakhstan, which showed evidence of the importance of this event. The cooperation of the Research Centre for Medical Genetics with colleagues from Kazakhstan will be continued.