Research Centre for Medical Genetics
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Moscow 115522, Russian Federation
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Congress "Orphan Diseases" brought together more than 2000 listeners

"Orphan diseases" is IV Russian Scientific and Practical Congress with international participation.  Presented topical issues of diagnosis and treatment of diseases from the list of the "Krug dobra" Foundation.

On June 9-10, 2022, the "Orphan Diseases" IV Russian Scientific and Practical Congress with international participation  was held in the building of the Moscow City Hall.  Topical issues of diagnosis and treatment of diseases included in list of the "Krug dobra" Foundation.

Event organizers:

  • Ministry of Science and Higher Education of the Russian Federation
  • Ministry of Healthcare of the Russian Federation
  • The Research Centre for Medical Genetics 
  • Association of Medical Geneticists
  • Russian Society of Medical Geneticists

The opening ceremony was attended by:

  • Archpriest Alexander Tkachenko, Chairman of the Board of the "Krug dobra" Foundation;
  • Sergey Kutsev, Director of the Research 
  • Centre for Medical Genetics, chief freelance specialist in medical genetics of the Ministry of Healthcare of Russia, academician of the Russian Academy of Sciences;
  • Vera Izhevskaya, Deputy Director of the Research Centre for Medical Genetics, Chairman of the Russian Society of Medical Geneticists, MD;
  • Leila Namazova-Baranova, Chairman of the Executive Committee of the Union of Pediatricians of Russia, specialist in the field of pediatric clinical allergology, academician of the Russian Academy of Sciences 

The congress was devoted to topical issues of diagnosis and treatment of diseases from the list of the "Krug dobra" Foundation. Archpriest Alexander Tkachenko, Chairman of the Board of the Foundation, addressed the participants of the Congress at the opening ceremony.

- I want to express gratitude from the patient community to each of you for your scientific and practical work in the diagnosis and treatment of orphan diseases.  Now we have 53 nosologies represented in the lists of the fund.  The work of the "Krug dobra" Foundation Expert Council is well structured for effective inclusion of new diseases. We assess whether there are available drugs with proven efficacy for the treatment of these diseases.  The most important achievement of the Foundation is ensuring fastest supply with new drugs.  At the moment, we already have more than 3 thousand children who have received modern medicines.  Thanks to the treatment, they have regained their childhood: they can play, learn, play sports, they can express themselves through creativity.

This work would not have been possible without the reliance of the Foundation on the expert community and leading experts in the field of diagnostics and treatment of orphan diseases, doctors of various specialties, healthcare organizers, - said Alexander Tkachenko.

Director of the Research Centre for Medical Genetics, Academician of the Russian Academy of Sciences, Sergey Kutsev cited the situation with drug provision for children with achondroplasia as an example of the high efficiency of the “Krug dobra” Foundation.

- The drug was registered in Europe in August 2021, and already in October it was decided that it would be available for Russian children with achondroplasia.  Not all European countries provide patients with this treatment today.  There are dozens of similar examples that testify that the “Krug dobra” Foundation represents an exceptionally highly effective system,” Sergey Kutsev said.

Issues of the Medical Genetic Service of Russia were raised separately at the Congress: a three-level system of organization, staffing with equipment and specialists for consultations at various levels, and development prospects.

- We expect that thanks to this event we will develop a unified strategy for the development of the Medical Genetic Service of Russia for the coming years.  In addition to the strategy, we will also develop work tactics, identify pain points and understand which areas of activity of the Medical Genetic Service should be developed first of all, - said the chief physician of the Research Centre for Medical Genetics, Sergei Voronin.

“Such events are very necessary to inform doctors about orphan pathologies and their diagnosis, share experience with colleagues.  It is important that students get the opportunity to absorb the experience that has already been accumulated,” said the Chairman of the Russian Society of Medical Genetics, MD,  Vera Izhevskaya.

2999 participants from 17 countries of the world and from 81 regions of Russia were registered for the congress.  The event was held in a hybrid format: 683 participants visited the site in person and 1620 participants connected online.  There were 115 reports from 85 speakers. In the period from June 9 to 10, 28 symposiums, a plenary session, a specialized commission on medical genetics, a round table "Ensuring the development of genetic technologies in the current economic conditions - research, development, material and technical equipment", were held.

Experts discussed hereditary metabolic diseases, neonatal screening, hereditary eye diseases, hereditary diseases accompanied by growth disorders, chromosomal microarray analysis, next generation sequencing, hereditary lung diseases, autoinflammatory diseases and much more.

Particular attention was paid to the question of expanding the neonatal screening program, the widespread introduction of selective screening programs, their inclusion in preventive examinations throughout different regions of the Russian Federation, to the possibilities of expanding of molecular genetic testing for hereditary orphan diseases.

"Orphan Diseases" is an annual and the only congress in Russia, where topical issues of diagnosis and treatment of orphan hereditary diseases are discussed at plenary and breakout sessions.

More information about the materials of the congress can be found here: