Evgeniya Isanova, an intern and radiology specialist at the Novosibirsk State University Institute of Medicine and Psychology Center for Graduate Medical Education, was awarded the Professor Y.N. Sokolov prize for the best scientific work on radiation diagnostics in the Russian Federation.
The XI All-Russian Congress of Diagnosticians and Therapists, "Radiology-2017", was held in Moscow on May 23-25. More than 4000 people attended. This was the 11th Congress and the third time a representative from the Siberian Branch of the Russian Academy of Sciences International Tomography Center or student from Novosibirsk State University were recipients of the Y.N. Sokolov Radiology Diagnostics prize.
Evgeniya Isanova received the award for her work, "Investigation of neuronal activity and disorders in the white matter structure of the brain in patients with the fragile X-chromosome syndrome using MRI and MR tractography." Evgeniya noted that for young scientists this award is of great importance as an opportunity to demonstrate their capabilities, "The ‘Radiology’ Congress is the largest event for radiology diagnostics in the Russian Federation so receiving the Y..N. Sokolov award is extremely prestigious, especially for young professionals. The award not only gives high level recognition of work’s quality, but also provides impetus for future development in this scientific field.”
Andrei Tulupov, Deputy Director of the Novosibirsk State University Institute of Medicine and Psychology, Head of the MRI Technology Laboratory at the Institute "International Tomography Center" SB RAS, Doctor of Medical Sciences and Professor of the Russian Academy of Sciences was the scientific supervisor for this work. He explained that the project includes molecular genetics and magnetic -resonance study of people with the fragile X-chromosome syndrome. In addition, it clarifies and expands on the theory of pathogenesis for this disease and develops recommendations for the improving the clinical diagnostic protocol for this syndrome.
The fragile X chromosome syndrome is the most common cause of hereditary mental retardation. It occurs as a result of an expansion of the CHG repeat in the promoter region of the fmr1 gene, which leads to ending the expression of this gene.
“Currently, the diagnosis of this syndrome in most hospitals is limited to clinical procedures and cytogenetic analysis. In many cases this is not enough to make a proper diagnosis because it leaves questions related to the genetic counseling of relatives who are carriers of the premutation. During the implementation of this project, recommendations are being developed to include additional modern molecular genetic studies and new approaches using MRI in the diagnostic process " said Andrei Tulupov.
The study was conducted as part of a project supported by grant RNF 15-15-10001, "Molecular-genetic and MRI study of patients with X-chromosome breakage syndrome", that is being led by D.V. Yudkin, Ph.D.
Work by the winner of the Y..N. Sokolov prize will be published in the Russian Electronic Journal of Radiology and indexed in the Scopus database.