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VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia.

ABSTRACT: Background:VIII World Rett Syndrome Congress & Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors to the scientific program have stood the test of time. The Symposium of Rare Diseases has shown that studying Rett syndrome provides clues on molecular and cellular mechanisms for a variety of rare genetic/genomic disorders. Moreover, rare diseases associated with Rett-syndrome-like phenotype or MECP2 mutations/copy number variations have been thoroughly covered by a number of contributors. In this respect, we have found that a review dedicated to the scientific program of the VIII World Rett Syndrome Congress & Symposium of Rare Diseases could be an important addition to current literature. Conclusion:Taking the opportunity to review the World Rett Syndrome Congress & Symposium of Rare Diseases at Kazan, we have made an attempt to describe a number of achievements and developments in the field of studying Rett syndrome and rare diseases in Russia. Furthermore, chromosomal abnormalities/disorders have been considered in the rare disease context. Such approach to chromosomal abnormalities/disorders has been found to be rather new for an appreciable part of international researchers and health care providers. We do hope that this congress review may be helpful not only for those who are interested in local development of research and management of rare genetic disorders, but also for international researchers and clinical community of rare disease specialists.

SUBMITTER: Iourov IY

PROVIDER: S-EPMC6304760 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia.

Iourov Ivan Y IY Vorsanova Svetlana G SG Yurov Yuri B YB Bertrand Thomas T

Molecular cytogenetics 20181224

<h4>Background</h4>VIII World Rett Syndrome Congress & Symposium of Rare Diseases was held in Kazan, Russia from 13 to 17 May 2016. Although it has been a while since the event, specific problems highlighted by the contributors to the scientific program have stood the test of time. The Symposium of Rare Diseases has shown that studying Rett syndrome provides clues on molecular and cellular mechanisms for a variety of rare genetic/genomic disorders. Moreover, rare diseases associated with Rett-sy ...[more]

PMID: 30603047

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Project description:According to global annual estimates hunger/malnutrition is the major cause of death (36 of 62 million). Cardiovascular diseases and cancer (5.44 of 13.43 million) are the major causes of death in developed countries, while lower respiratory tract infections, human immunodeficiency virus infection/acquired immunodeficiency syndrome, diarrhoeal disease, malaria and tuberculosis (10.88 of 27.12 million) are the major causes of death in developing countries with more than 70% of deaths occurring in children. The majority of approximately 800 million people with other rare diseases, including 100000 children born with thalassaemia annually receive no treatment. There are major ethical dilemmas in dealing with global health issues such as poverty and the treatment of orphan and rare diseases. Of approximately 50000 drugs about 10% are orphan drugs, with annual sales of the latter approaching 100 billion USD. In comparison, the annual revenue in 2009 from the top 12 pharmaceutical companies in Western countries was 445 billion USD and the top drug, atorvastatin, reached 100 billion USD. In the same year, the total government expenditure for health in the developing countries was 410 billion USD with only 6%-7% having been received as aid from developed countries. Drugs cost the National Health Service in the United Kingdom more than 20 billion USD or 10% of the annual health budget. Uncontrollable drug prices and marketing policies affect global health budgets, clinical practice, patient safety and survival. Fines of 5.3 billion USD were imposed on two pharmaceutical companies in the United States, the regulatory authority in France was replaced and clinicians were charged with bribery in order to overcome recent illegal practises affecting patient care. High expenditure for drug development is mainly related to marketing costs. However, only 2 million USD was spent developing the drug deferiprone (L1) for thalassaemia up to the stage of multicentre clinical trials. The criteria for drug development, price levels and use needs to be readdressed to improve drug safety and minimise costs. New global health policies based on cheaper drugs can help the treatment of many categories of orphan and rare diseases and millions of orphan patients in developing and developed countries.

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VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia.

Publications

VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia.

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