Abstract
BackgroundVIII 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.ConclusionTaking 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.
Highlights
According to Kathy Hunter, the founder of International Rett Syndrome (OMIM: 312750; Rett syndrome (RTT)) Association in the United States of America, seven previous World Congresses dedicated to RTT have been held in Antwerp (Belgium), Gothenburg (Sweden), Edinburgh (Scotland), Karuizawa (Japan), Helsinki (Finland), Paris (France), New Orleans (USA)
We have attempted to review scientific and practical aspects of the great body of research on RTT and rare diseases presented at the VIII World Rett Syndrome Congress & Symposium of Rare Diseases in the historical perspective
This information is likely to be valuable both for those who are interested in local development of research and management of rare genetic disorders and for international researchers and clinical community of rare disease specialists
Summary
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. 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 for those who are interested in local development of research and management of rare genetic disorders, and for international researchers and clinical community of rare disease specialists
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