Rare diseases and personalized medicine: results of the conference
The "Road of Life" opens for Russian orphan patientsKira Aptraxina, Remedium
The V Eastern European Conference on Rare Diseases and Orphan Medicines "Rare Diseases in the focus of personalized Medicine", which was held on July 2-4, 2010 in the Congress Center of the Park Inn Pribaltiyskaya Hotel, has completed its work in St. Petersburg.
I would especially like to note that the First All-Russian Conference on Rare Diseases and Rarely Used Medical Technologies "The Road of Life" was held within the framework of the forum. Sponsorship was provided by pharmaceutical companies: Bristol - Myers Squibb, Actelion, Genzyme, Swedish Orphan International's, Amgen, GlaxoSmithKline, Shire, Octapharma, Biotest Pharma GmbH.
The conference brought together more than 500 leading scientists, medical specialists (endocrinologists, oncologists, immunologists, laboratory diagnostics specialists, geneticists, pharmacologists, etc.), representatives of patient organizations, politicians, representatives of the medical and pharmaceutical industry from Russia, Europe, Asia and America.
During the opening of the First All-Russian Conference on Rare Diseases, the welcoming speech was made by: Svetlana Karimova, Chairman of the Organizing Committee, President of the National Association of Organizations of Patients with Rare Diseases "Genetics"; Mikhail Eduardovich Oseevsky, Vice-Governor of St. Petersburg; Alexander Dmitrievich Apazov, President of the Russian Pharmaceutical Association; Rumen Stefanov (Bulgaria), Director of the Information Center for Rare Diseases and Orphan Medicines of the Bulgarian Association for the Development of Education and Science; Omelyanovsky Vitaly Vladimirovich, Director of the Research Institute "Clinical and Economic Expertise and Pharmacoeconomics" of the State Educational Institution "RSMU", Chairman of the Expert Council on Healthcare of the Federation Council Committee on Social Policy and Healthcare, as well as representatives of the Federation Council of the Russian Federation, the State Duma of the Russian Federation; Ministry Health and Social Development of the Russian Federation; Federal Service for Supervision of Health and Social Development; Health Committee of the Government of St. Petersburg.
The most important issues of personalized medicine and rare diseases were discussed at the round tables of the conference, the participants of the conference shared their successful experience and prospects for the future.
According to expert estimates, about 6-8% of the world's population suffers from rare diseases, in Russia – at least 1% of the population, i.e. about 1.5 million people. Two thirds of rare diseases manifest themselves in early childhood, in 65% of cases they have a severe disabling course, in 35% of cases they cause death within the 1st year of life.
The problem of rare diseases in most EU countries is among the priorities of national policy. It is allocated to a separate medical area and is solved at the state level through strategic programs.
In Russia, the situation with medical and social care for rare patients remains difficult. Until now, the concepts of "rare disease", "rare drug", criteria for classifying diseases as rare have not been legally fixed, patient registers have not been formed.
During the event, more than 12 breakout sessions were held for medical specialists and patient organizations in order to deepen the level of knowledge of the conference participants and create a special atmosphere conducive to establishing relationships and cooperation.
The symposium of orphan pharmaceutical company Genzyme "Modern possibilities of diagnosis and treatment of lysosomal accumulation diseases" was held within the framework of the conference. Of particular interest was the report of the French professor Germaine D.P., who told about the causes and pathophysiology of lysosomal accumulation diseases, in particular about Gaucher and Fabry diseases.
Professor Germaine also touched upon the issues of diagnostics and enzyme therapy. When treating at an early stage of the disease and carrying out replacement enzyme therapy allows patients with similar hereditary diseases not only to survive, but also to lead a full-fledged lifestyle.
The participants of the symposium were also addressed by Prof. E.L. Dadali (Moscow), who spoke about the clinical and genetic analysis of progressive muscular dystrophy. Prof. Semyachkina A.N. (Moscow) shared her experience of diagnosis and treatment in Russia. Dr. Salogub G.N. (St. Petersburg) presented algorithms for differential diagnosis of Gaucher disease.
Dr. Sozin S.E. (St. Petersburg) presented data on enzyme replacement therapy of Fabry's disease on the example of specific patients who currently feel well and can work and study.
Representative of Genzyme pharmaceutical company Fresens S. (Germany) spoke about the company's activities and plans, in particular, her report was devoted to the global Genzyme project Register of Patients with Rare Diseases, whose contribution is very important in the study of rare genetic diseases not only for scientists, doctors and patients, but also for government officials.
Innovative orphan drugs developed by Genzyme were also presented at the symposium. These drugs have proven their effectiveness in the treatment of patients with rare diseases in practice.
At the end of the conference, a resolution of the conference was adopted, which reflects the views of the participants regarding the attitude of the governments of Eastern European countries to solving the problems of patients with rare diseases.
Portal "Eternal youth" http://vechnayamolodost.ru06.07.2010