Summary of the results of the FSBI RCMG Young Researchers Contest 2020

On December 26, 2020, an online conference of young researchers of the FSBI Academician N.P. Bochkov Research Centre for Medical Genetics was held. Thirteen young scientists presented their findings. Researchers of the Laboratories of Functional Genomics, DNA-diagnostics, Stem Cell Genetics, Genome Editing, Hereditary Metabolic Diseases, Molecular Biology and Cystic Fibrosis Research and Clinical Department attended the Conference.

The FSBI RCMG Academic Council members attended the Conference and Dr. A.S. Tsukanov, Doctor of med. sci., Head of the Laboratory Genetics Department of FSBI A.N. Ryzhikh State Scientific Center for Coloproctology under the Ministry of Health of Russia, was invited as an independent expert.

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

The winners were determined by a secret ballot of the Academic Council members and the invited experts. In a vote, four prizes were awarded to the participants:

1st place:

Igor Olegovich Bychkov, Researcher at the Hereditary Metabolic Diseases Laboratory: “Study of a rare molecular mechanism of Pompe disease”.

2nd place:
Petr Andreyevich Sparber, Jr. Researcher at the Functional Genomics Laboratory: “Studies of mechanisms of splicing disruption in the SCN1A gene”

3rd place:
Kseniya Alexeyevna Davydenko, postgraduate student at the Functional Genomics Laboratory: “Functional study of the missense variant c.859A>G in the ADSL gene and evaluation of its effect on pre-mRNA splicing”.

4th place:
Victoria Andreyevna Serzhanova, Researcher at the Functional Genomics Laboratory: “Analysis of mRNA structure identified a new mutation in the CTNS gene".

Congratulations on your well-deserved victories!!!