We congratulate the FSBI RCMG researchers on defense of dissertations
Dissertation Council D 001.016.01 met on 21 December 2020 in the conference hall of the FSBI Academician N.P. Bochkov Research Centre for Medical Genetics.
News
December 2020
Creation of Cartographic atlas of 45 pharmacogenetic markers prevalent in the population of Russia and neighboring countries
The Human Population Genetics Laboratory employees performed the work.
Analysis of genome risks variations associated with severe Covid-19 across the worldwide populations
Joint article by the researchers of the Human Population Genetics Laboratory was published on the preprint MedRxiv website.
November 2020
Data on MicroRNA in Gastric Cancer Development was analyzed
Diagnostics journal (IF 3.11; Q1) published an article of the researchers of the Laboratory of Complex Inherited Diseases Molecular Genetics.
Describing the effectiveness of genomic editing in cells of cystic fibrosis patients
В журнале PLoS ONE (IF 2,74; Q2) опубликована статья сотрудников лаборатории редактирования генома, описывающая редактирование мутации F508del в гене CFTR в клетках больных муковисцидозом.
RCMG employees are involved in the development of biobanks network in Russia
В журнале Biopreservation and Biobanking (IF=2,022) при участии сотрудника МГНЦ О.П.Балановского вышла статья о создании, задачах и работе Ассоциации российских биобанков NASBIO.
The first world’s report de novo missense mutation in the SYT2 gene causing distal hereditary motor neuropathy
Genes published the results of joint study by RCMG and Central Children’s Clinical Hospital researchers.
October 2020
Research on molecular mechanism of Becker myotonia development
BMC Medical Genetics published the results of the study.
The research on various haploinsufficiency mechanisms in Russian patients with Pitt-Hopkins syndrome
European journal of Medical Genetics published the results of the study.
Analysis of candidate genes expected to be essential for melanoma surviving
Cancer Cell International published the results of the study.
An overview of currently available molecular CRISPR-Cas-tools for precise genome modification
The data were published as a review in the highly rated foreign journal Gene.
One possible cause for severe cystic fibrosis phenotype has been identified
The Genes journal published the results of the study.
CRISPR / Cas9 base editors systems were used for genome-wide search for pathogenic mutations
BMC Medical Genomics published the study.
Defense of thesis works by FSBI RCMG researchers
E.V. Musatova and S.A. Repina obtained Candidate of Science degrees.
September 2020
Publication of an Educational Guide "Methodology of genetic and epidemiological study of inherited diseases and congenital malformations"
The team of authors of the FSBI RCMG Academician N.P.Bochkov Research Centre for Medical Genetics published an Educational Guide "Methodology of Genetic and Epidemiological Study of Hereditary Diseases and Congenital Malformations" edited by R.A. Zinchenko, S.S. Amelina, S.I. Kutsev and E.K. Ginter.
Description of a new phenotype of heavy anterior segment dysgenesis of the eye
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.
Optimizing the prediction of eye and hair color for North Eurasian populations according to DNA-analysis
Prediction of eye and hair color based on genotype has become a recognized and widely used tool in forensic genetics, as well as in studies of ancient populations.
The results of the study on the global public perceptions of genetic data sharing about people and exchange of genetic data by different categories of researchers were published
Analysis of genomic data among populations is central to understanding the role of genetic factors in health and disease.
The Genome Editing Laboratory obtained and described the induced pluripotent stem cell line of a cystic fibrosis patient
Stem Cell Research (Q1, Impact-factor 4,489) published the results of their work.
Journal of Autism and Developmental Disorders published an article discussing Complicated MECP2 Gene Structural Rearrangement
Journal of Autism and Developmental Disorders (Impact factor 3.047 Q1 WOS) published an article by the researchers of DNA-Diagnostics Laboratory (headed by Prof. A.V. Polyakov, RAS corr. member), Epigenetics Lab (headed by V.V. Strelnikov, Doctor of biological sci.) and Cancelling Unit (headed by G.N. Matyuschenko) of FSBI RCMG Academician N.P.Bochkov Research Centre for Medical Genetics and Clinical Bioinformatics Laboratory, OOO Genomed LLC:
August 2020
RFFI provided grants to support scientific research of RCMG postgraduate students
Petr Andreyevich Sparber and Daria Alexandrovna Yurchenko, the postgraduate students of the Research Center for Medical Genetics, won the RFFI contest for the best projects of fundamental scientific research carried out by young scientists studying at the postgraduate level.
BMC Neurology journal published the research on the families with autosomal dominant spastic paraplegias (SPG30)
BMC Neurology (Q1, IF 2.350) published an article by the researchers of FSBI RCMG various units including Research and Counseling Department (headed by E.L. Dadali, Doctor of med. sci.), DNA-Diagnostics Laboratory (headed by Prof. A.V. Polyakov, RAS corr. member) and Cancelling Unit (headed by G.N. Matyuschenko).
Neoplasma journal published an article on the study of molecular and genetic causes of familial adenomatous polyposis
Neoplasma (Q4, IF1.771) published the results of a joint work by researchers of FSBI RCMG and A.N. Ryzhykh National Medical Research Center of Coloproctology.
ScientificReports journal published the results of the wide-genome analysis of DNA methylation of the breast tumor
ScientificReports (Q1, IF 3.998,) published an article being one of the first in the world, written by the researchers of the FSBI RCMG Epigenetics Laboratory (headed by V.V.Strelnikov, Doctor of biological sci.).
July 2020
International Journal of Pediatric Otorhinolaryngology published an article by the FSBI RCMG researchers
International Journal of Pediatric Otorhinolaryngology (Impact Factor 1.241, Q3) published an article by the researchers of the FSBI RCMG DNA-Diagnostics Laboratory (headed by A.V. Polyakov).
Genes (Impact Factor 3.759, Q2) published an article by the FSBI RCMG researchers
Genes journal (Impact Factor 3.759, Q2) published an article by the researchers of the FSBI RCMG Genetic Epidemiology Laboratory (headed by Prof. R.A.Zinchenko, Doctor of med. sci.).
GENES journal published an article by FSBI RCMG researchers
GENES (IF 3.759 WOS Q2) published an article by the FSBI RCMG DNA-Diagnostics Laboratory (headed by A.V. Polyakov), Hereditary Metabolic Diseases Laboratory (headed by E.Yu. Zakharova), and Counseling Department (headed by G.N. Matyuschenko).
Publication in The American Journal of Human Genetics
The American Journal of Human Genetics published an article disclosing the results of a large-scale study of genetic epidemiology of phenylketonuria. The FSBI RCMG researchers were also involved in writing thereof.
Fabri Disease Selective Screening: review of literature and experience in the Russian Federation
In Clinical Nephrology journal (RINC: 0,476) the researchers of the FSBI RCMG Hereditary Metabolic Diseases Laboratory (headed by E.Yu. Zakharova, Doctor of med. sci.) have for the first time in Russia proposed and described the application of selective screening method for Fabry Disease diagnosis in dried blood spots.
June 2020
Publication in Frontiers in Cell and Developmental Biology journal
Frontiers in Cell and Developmental Biology (IF 5.206, Scopus Q1) published an article by the researchers of the FSBI RCMG Molecular Biology Laboratory (headed by S.V. Kostyuk, Doctor of biological science) who for the first time published data on the influence of large domain 1q12 on the chromatin movement and adaptive response inhibition.
Publication in Biomedicines journal
Biomedicines (impact-factor 3.331, ScopusQ1) published an article by the researchers of the FSBI RCMG Epigenetics Laboratory (headed by Strelnikov V.V., Doctor of biological science).
Publication in Journal of Medical Genetics
Journal of Medical Genetics» (impact-factor 5.899, Q1) published an article by the researchers of the FSBI RCMG Genetic Epidemiology Laboratory (headed by Prof. R.A.Zinchenko, Doctor of med. sci.)
May 2020
Publication in Gene journal
Gene (impact-factor 3.331, Q2, IF 3.331) published an article by the researchers of the FSBI RCMG Genetic Epidemiology Laboratory (headed by Prof. R.A.Zinchenko, Doctor of med.sci.): Analysis of CFTR mutation spectrum in ethnic Russian CF patients
Publication in Diagnostics
Diagnostics journal (IF 2.489, Q2) published an article by the researchers of the FSBI RCMG Hereditary Metabolic Diseases Laboratory (the Lab Head is E.Yu. Zakharova, Doctor of medical science)
Publication in Journal of Inherited Metabolic Disease Reports
Journal of Inherited Metabolic Disease Reports (Scopus database journal index) published an article by the FSBI RCMG Hereditary Metabolic Diseases Laboratory researchers
February 2020
Scientific Reports (IF 4,122, Q1) published an article by the FSBI RCMG researchers on Clinical relevance of somatic mutations in gastric cancer
Scientific Reports (impact-factor 4.122, Q1) published an article by the Epigenetics Laboratory researchers (the Lab Head is V.V. Strelnikov, Doctor of biological science):
Publication in Mitochondrion (IF 3,5; Q2) proved three pathogenic mtDNA substitutions in Leber’s optic neuropathy
Mitochondrion (IF 3,5; Q2) published an article by the FSBI RCMG Hereditary Metabolic Diseases Laboratory researchers (the Lab Head is E.Yu. Zakharova, Doctor of medical science):
Clinica Chimica Acta (IF 2.735, Q2) published an article by the FSBI RCMG researchers on the potential marker of Fabry disease
Clinica Chimica Acta (IF 2.735, Q2) published an article by the FSBI RCMG Hereditary Metabolic Diseases Laboratory researchers (the Lab Head is E.Yu. Zakharova, Doctor of medical science):
Publication in Molecular Biology Reports journal
Molecular Biology Reports (IF 2.107, Q3) published an article by the researchers of the Genome Editing Laboratory (the Lab Head is S. A. Smirnikhina, Candidate of medical science).
Publication in Familial Cancer journal
Familial Cancer (IF 2.2, Q3) published an article by the FSBI RCMG Functional Genomics researchers (the Lab Head is M.Yu. Skoblov, Candidate of biological science): Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family
January 2020
Article in the Genes and Cells Journal
The Genes and Cells Journal (Impact Factor 0.914, Q3) published an article by researchers of FBSI RCMG Genome Editing Laboratory (Lab Head is S.A. Smirnikhina, Candidate of med.sci.):
Article in International Journal of Molecular Sciences
International Journal of Molecular Sciences (Impact Factor 4.183, Q2) published an article by FBSI RCMG Genetic Epidemiology Laboratory (headed by Prof. R.A. Zinchenko, Doctor of med. sci.):
Publication by FBSI RCMG researchers in Diagnostics Journal
Diagnostics Journal (Impact factor 2.489, Q2) published an article by researchers of the FBSI RCMG Laboratory of Complex Inherited Diseases Molecular Genetics (headed by Prof. A.V. Karpukhin, Doctor of medical science):
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.
