Research Centre for Medical Genetics
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Moscow 115522, Russian Federation
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The second Orphanica conference brought together more than 6,500 experts

On May 27, Moscow hosted the Second Russian Multimedia Conference "ORPHANICA", one of the largest forums in Russia devoted to rare (orphanedic) diseases. The Association of Medical Genetics and the FSBI Academician N.P. Bochkov Research Centre for Medical Genetics organized the event.  The event, which gathered an unprecedented number of spectators - more than 6500 people from all over Russia, focused on the clinic, diagnosis and treatment of genetic diseases in the practice of rheumatologists, orthopedists and neurologists. The participants discussed diagnostic problems of hereditary auto-inflammatory syndromes, diagnostics and treatment of lysosomal storage disorders and other hereditary metabolic diseases accompanied by skeletal pathology, hereditary skeletal dysplasia, spinal muscular atrophy and other rare diseases.

Due to quarantine measures, the ORPHANICA conference was held fully online, which, however, did not prevent leading Russian geneticists, rheumatologists, orthopedists and neurologists from gathering on one virtual site.

The Chairpersons of the conference were Sergey KUTSEV, RAS Corresponding Member, Director of the FSBI Academician N.P. Bochkov Research Centre for Medical Genetics, Chief External Expert in Medical Genetics of the Russian Ministry of Health, and Ekaterina ALEKSEYEVA, Director of N.F. Filatov Clinical Institute of Children's Health, Chief External Children's Rheumatologist of the Russian Ministry of Health, RAS corresponding member.

Among the speakers were heads of research departments of the FSBI N.P. Bochkov Research Centre for Medical Genetics, Alexander POLYAKOV, RAS corresponding member, Ekaterina Zakharova, Doctor of medical science, Professor Elena Dadali, researchers and doctors of the Centre Irina Sermyagina, Tatiana Markova, Artem Borovikov, Victoria Zabnenkova.

Based on the results of the plenary session and other sections of ORPHANICA conference, experts will prepare a resolution that will consolidate the basic principles of orphan suspicion and give recommendations to specialized experts in diagnostics of orphan diseases.

Video recordings of conference symposia are available to registered participants on the website http://ormiz.ru/orfanica/

The next, third ORPHANICA conference will take place on September 16, 2020.