Yuri B. Yurov (1951-2017)

Iourov, Ivan Y.; Vorsanova, Svetlana G.

doi:10.1186/s13039-018-0383-3

Cited by 5 publications

(4 citation statements)

References 94 publications

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“…Unfortunately, the review summarizing his many scientific accomplishments and describing his life unselfishly devoted to bioscience has not been included in the most popular scientific databases unlike many obituaries of other recognizable scientists, unhappily abundant this year. Accordingly, to redress this injustice, we have taken the opportunity to pay attention of a wider audience to the life and legacy of this prodigious researcher [49]. This tragedy is the major, but not unique, reason of the delayed publication of this article.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2018

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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.Electronic supplementary materialThe online version of this article (10.1186/s13039-018-0412-2) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

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

et al. 2018

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“…Our communication as well as our consortium is dedicated to Professor Yuri B. Yurov, an outstanding researcher in the field of medical genomics, whose contribution to molecular cytogenetics and cytogenomics is hard to estimate [ 149 ]. His main research targets were chromosomal abnormalities in brain disorders and genomic variations in the diseased brain.…”

Section: Dedicationmentioning

confidence: 99%

Cytogenomic epileptology

et al. 2023

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Molecular cytogenetic and cytogenomic studies have made a contribution to genetics of epilepsy. However, current genomic research of this devastative condition is generally focused on the molecular genetic aspects (i.e. gene hunting, detecting mutations in known epilepsy-associated genes, searching monogenic causes of epilepsy). Nonetheless, chromosomal abnormalities and copy number variants (CNVs) represent an important part of genetic defects causing epilepsy. Moreover, somatic chromosomal mosaicism and genome/chromosome instability seem to be a possible mechanism for a wide spectrum of epileptic conditions. This idea becomes even more attracting taking into account the potential of molecular neurocytogenetic (neurocytogenomic) studies of the epileptic brain. Unfortunately, analyses of chromosome numbers and structure in the affected brain or epileptogenic brain foci are rarely performed. Therefore, one may conclude that cytogenomic area of genomic epileptology is poorly researched. Accordingly, molecular cytogenetic and cytogenomic studies of the clinical cohorts and molecular neurocytogenetic analyses of the epileptic brain appear to be required. Here, we have performed a theoretical analysis to define the targets of the aforementioned studies and to highlight future directions for molecular cytogenetic and cytogenomic research of epileptic disorders in the widest sense. To succeed, we have formed a consortium, which is planned to perform at least a part of suggested research. Taking into account the nature of the communication, “cytogenomic epileptology” has been introduced to cover the research efforts in this field of medical genomics and epileptology. Additionally, initial results of studying cytogenomic variations in the Russian neurodevelopmental cohort are reviewed with special attention to epilepsy. In total, we have concluded that (i) epilepsy-associated cytogenomic variations require more profound research; (ii) ontological analyses of epilepsy genes affected by chromosomal rearrangements and/or CNVs with unraveling pathways implicating epilepsy-associated genes are beneficial for epileptology; (iii) molecular neurocytogenetic (neurocytogenomic) analysis of postoperative samples are warranted in patients suffering from epileptic disorders.

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“…Таким образом, чтобы исправить эту несправедливость, мы пользуемся возможностью и обращаем внимание широкой аудитории на жизнь и наследие профессора Ю.Б. Юрова -блистательного ученого и необыкновенного человека [53]. Трагедия его потери огромная, но не является единственной причиной публикации этой статьи.…”

Section: постскриптумunclassified

Rett syndrome in Russia and abroad: a scientific historical review

Vorsanova

Воинова

Юров

2020

Ross. vestn. perinatol. pediatr.

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This review presents the theoretical, practical and geographical aspects of Rett syndrome and other rare diseases, according to the data of the last VIII International Congress in Russia, and the main publications on Rett syndrome. The issues highlighted by the participants remain relevant and determine the direction of modern studies. The presentations made at the symposium helped to form a global concept of the molecular and cellular mechanisms of Rett syndrome and a number of rare genetic/genomic diseases. The article presents a number of domestic findings in the field of Rett syndrome and other rare diseases. The authors also present information on rare diseases associated with the Rett-like-phenotype or with mutations/variations of the MECP2 gene sequence copies. The authors consider the identified chromosomal (genomic) disorders / diseases in the context of rare diseases. This approach to the Rett syndrome studies analysis is quite new in the world research practice. We hope this review to become valuable not only for specialists in the field of rare genetic diseases, but also for the scientists and clinicians studying Rett syndrome and for physicians (pediatricians, geneticists, neurologists, psychiatrists) meeting these patients in their practice.

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Yuri B. Yurov (1951-2017)

Cited by 5 publications

References 94 publications

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

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

Cytogenomic epileptology

Rett syndrome in Russia and abroad: a scientific historical review

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