On December 14, Almazov Centre hosted the interregional expert meeting «Rare Geography of the Russian Federation» with the participation of leading specialists in the organization of medical care for patients with rare diseases in Russian regions. The event was organized by the Expert Council on Rare Diseases of the State Duma Committee on Health Protection (Expert Council), Almazov National Medical Research Centre, Semashko National Research Institute of Public Health and the All-Russian Society of Orphan Diseases.
Alexander Rumyantsev, Academician of the Russian Academy of Sciences, Chairman of the Expert Council, welcomed the participants of the session. The event continued with a presentation on «Rare geography of the Russian Federation: results of monitoring of medical organizations and survey of patients with rare diseases» by Elena Shukan, Head of the Project Office on Rare Diseases, Semashko National Research Institute of Public Health.
Dr. Tatiana Pervunina, Director of the Institute of Perinatology and Pediatrics, spoke about the resources of Almazov Centre to provide medical care for patients with rare diseases. Ekaterina Zakharova, Head of Inherited Metabolic Disease Laboratory, Bochkov Medical and Genetic Research Centre, gave a presentation entitled: «Early diagnosis of rare diseases: topical issues of interaction after diagnosis» (with lawyer’s comments).
Nelya Pogosyan, Deputy Chair, Board of the All-Russian Society of Orphan Diseases, and Olga Germanenko, Founder and Director of the Charitable Fund for Patients with Spinal Muscular Atrophy and Other Neuromuscular Diseases, member of the Expert Council, continued the discussion on the interaction of regional and federal medical institutions in the organization of care for children with rare diseases. Elena Gurkina, Deputy Chief of Almazov Centre, and Natalia Petrova, Head of Research Laboratory of Physiology and Diseases in Newborns, gave presentations on practical issues of interaction between the federal institution and Russian regions.
Elena Shukan raised a difficult issue – rare diseases outside the scope of state guarantee programmes. Irina Myasnikova, Chair of the Board of the All-Russian Society of Orphan Diseases, highlighted topical issues of interaction between regional and federal medical institutions in organizing care for adults with rare diseases. Natalia Smirnova, lawyer and member of the Expert Council, spoke about regulatory and legal issues in the organization of care for patients with rare diseases in federal and regional institutions.
The meeting ended with a discussion in which the experts discussed practical issues of interaction between institutions and specialists at federal and regional level and regional initiatives.