Research Centre for Medical Genetics
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Conference and Contest of FBSI RCMG Young Researchers

Conference of young researchers from FBSI Bochkov Research Centre for Medical Genetics took place on December 10-11, 2019. Twenty-four researchers of our laboratories presented the results of their own scientific research: Epigenetics laboratory, Mutagenesis laboratory, Molecular Biology laboratory, DNA Diagnostics laboratory, Functional Genomics laboratory, Reproductive Disorders Genetics laboratory, Hereditary Metabolic Diseases laboratory, Genetic Epidemiology laboratory, Cytogenetics laboratory, Cystic Fibrosis Research and Clinical Department. 

Members of FBSI RCMG Academic Council attended the Conference. Those invited were also Prof. Akulenko, L.V., Doctor of med. sci., Head of the Medical Genetics Department at Evdokimov Moscow State Medical and Dental University, Tsukanov, A.S., Doctor of med. sci., Head of the Laboratory Genetics Unit, FSBI A.N. Ginger SSCC under the Russian Ministry of Health, and  Irina Viktorovna Mersiyanova, Candidate of biol.sci., Senior researcher at the Molecular Biology Laboratory of NMIC DGOI named after Dmitry Rogachev. 

The reports aroused great interest, many questions, and an active discussion.

Members of the Academic Council and the invited experts defined the winners by secret vote. In a vote, six prizes were awarded to the participants.

First place winners:

- A.Yu. Filatova, researcher at the Functional Genomics Laboratory (Head - Skoblov M.Yu., candidate of biol.sci.) for her report “Investigation of mechanism of the nucleotide sequence variants pathogenic effect in the PAX6 gene 5’translated region in patients with congenital aniridia”;

- P.A. Sparber, junior researcher at the same Laboratory: “Neurodegeneration with type 4 iron accumulation. New pathogenic patterns and interesting findings”;

Second place winners:

- I.O. Bychkov, Researcher at the Hereditary Metabolic Diseases Laboratory (Lab Head is Zakharova E.Yu., Dr.med.sci.): “Functional analysis of synonymous variants of unknown significance”;

- N.V. Zernov, Junior researcher at the Functional Genomics Laboratory (Lab Head is M.Yu. Skoblov, Candidate of biol.sci.): “Molecular genetic diagnosis of Landouzy-Dejerine type 1 dystrophy;

Third place winners:

- D.A. Yurchenko, Junior researcher at the Cytogenetics Laboratory (Lab Head is N.V. Shilova Doctor of medical science): “INV DUP DEL (8P): U-type exchange or ectopic recombination?”;

- A.A. Anuchina, Researcher at the Genome Editing Laboratory (Lab Head is S.A. Smirnikhina, Candidate of medical science,  “Development of a mechanism for the genes expression suppressing of DNA double strand break repair during genomic editing”;

Fourth place winners:

- V.A. Kadnikova, Researcher at the DNA Diagnostics Laboratory (Lab Head is A.V. Polyakov RAS Corresponding Member): “Hereditary spastic paraplegia in Russian patients”;

- E.V. Kondratieva, Researcher at the Genome Editing Laboratory (Lab Head is S.A. Smirnikhina, Candidate of med.sci.): “Editing the CFTR gene in cell cultures with homozygous P.F508DEL mutation”.

Yu.L. Melyanovskaya, Researcher at the Cystic Fibrosis Research and Clinical Department (Head is E.I. Kondratieva, Dr.med.sci) won an Incentive prize from the FBSI RCMG Director for her report “Application of the method for determining the difference in intestinal potentials (ORCP) with cystic fibrosis."

The contest in research scientific activity was first held in 2019 among FBSI RCMG young scientists. As a prize, the Centre provides a business trip to the ESHG 2020 Conference in Berlin.

Three winners were identified:

Andrey Vladimirovich Marakhonov, Candidate bio.sci., Senior researcher at FBSI RCMG Genetic Epidemiology Laboratory;

Aleksandra Yurievna Filatova, Researcher at FBSI RCMG Functional Genomics Laboratory;

Oksana Petrovna Ryzhkova, Cand.med.sci., Leading researcher at FBSI RCMG DNA-Diagnostics Laboratory, Head of FBSI RCMG  Share Resource Center.

Congratulations on your well-deserved victories!