Publication of the Survival estimates in European cystic fibrosis patients by the RCMG researchers’ joint study
European Respiratory Journal (Impact Factor 16.67) published a paper by N. Kashirskaya.
News
November 2021
Functional investigation of an undescribed missense variant in the SCN1A gene in a patient with Dravet syndrome
Frontiers in Neurology (Q2, IF- 4.003) published the RCMG researchers joint study.
RCMG is developing a test-system for early diagnosis of spinal muscular atrophy
The diagnostic test-system will be offered for use in expanded national neonatal screening.
October 2021
RCMG participated in the NAUKA0+ National Festival, organized by the Ministry of Science and Higher Education during the Year of Science and Technology
NAUKA 0+ Festival has become has become one of the largest popular science projects in the world in recent years
Publication of collaborative research paper on preclinical atherosclerosis in cystic fibrosis
Journal of Cystic Fibrosis published the study results with participation of N.Yu. Kashirskaya, Chief Researcher of the Genetic Epidemiology Laboratory.
The Genetic Epidemiology Laboratory researchers published a joint study to evaluate the effectiveness of newborn screening programs for cystic fibrosis
Journal of Cystic Fibrosis (IF 5.482) published the study results
A new rare molecular genetic mechanism leading to the development of Pompe disease has been discovered
International Journal of Molecular Sciences (Q1, IF 5,923) published the results of the RCMG researchers’ joint study
The Science published an article on the study of hepatitis B virus evolution in ancient people genes
This article was published jointly with O.P. Balanovsky, chief researcher of the Human Population Genetics Laboratory
September 2021
The Research Centre for Medical Genetics was declared the winner in the competition aimed at the bioresource collection development
The 177 million rubles grant is allocated for 3 years and will be implemented jointly with the
De novo missense variants in FBXO11 reduce its protein expression and alter subcellular localization
Human Molecular Genetics (Q1; IF – 6.15) published the results of study by the Functional Genomics Laboratory researchers and the RCMG medical geneticists as part of large-scale international collaboration.
The distribution of the CFTR gene variants in a number of populations and ethnic groups of the Russian Federation was studied
Frontiers Genetics (IF 4.599) published the results of the study made by the Genetic Epidemiology Laboratory researchers
European Journal of Translational Myology published an article with a review of orphan diseases
This is publication by the FSBI RCMG researchers
Long non-coding RNAs may be additional markers in the diagnosis of thyroid cancer
Scientific Reports published a joint study of the researchers of Epigenetics Laboratory and Genome Editing Laboratory
Molecular Cytogenetics journal published an article by the Cytogenetics Laboratory researchers (N.V. Shilova, Dr.Med.Sc., head of the Laboratory).
This article focuses on the clinical and molecular cytogenetic characterization of a new case of 17p13.3p13.1 microduplication due to unbalanced translocation
August 2021
An illustration from an article by RCMG researchers is on the cover of a highly rated journal
The August issue of Journal of Molecular Medicine (Q2, impact-factor 4.599) published an article on adenoassociated viral vectors
The Bioinformatics Department of RCMG has developed the "NGS-data-Genome" software for processing exome and whole-genome sequencing data
The Certificate of state registration of the software was issued
A study of the new human gene LINC00493 showed that its RNA and protein have different functions in the cell
Publication is in International Journal of Molecular Sciences (Q1, Impact Factor: 5.923).
July 2021
The first and only database of patients with the ultra-rare disease "WAGR"-syndrome is registered in Russia
The Genetic Epidemiology Laboratory researchers have created this database
The Genetic Epidemiology Laboratory researchers (Prof. R.A. Zinchenko, D.Med.Sc., Head of the Laboratory) discovered a new molecular cause of hereditary hearing loss in the Chuvash population
Publication in the highly rated (Q2, IF 3.759) foreign journal "Genes"
A new molecular mechanism leading to congenital aniridia has been identified
Human Mutation (IF 4.878) published the paper by the RCMG researchers.
A new mutation leading to Zellweger syndrome has been identified at RCMG
Molecular Genetics and Metabolism Reports published a joint study
June 2021
Genetic variant c.3140-16T>A (3272-16T>A) of the CFTR gene in patients of the Russian Federation is described
Genes published a joint study by the RCMG researchers (IF 3.8, Q2)
A new method of Facioscapulohumeral muscular dystrophy was developed
Diagnostics Journal published the results of the study by the Functional Genomics Laboratory researchers (IF 3.1, Q1).
May 2021
RCMG experts developed and registered their own software for NGS
The FSBI Academician N.P. Bochkov Research Centre for Medical Genetics was one of the first in Russia to introduce NGS methods into clinical practice and use them in their daily work to diagnose patients with suspected genetic diseases
A joint article on deep-phenotyping of PIGT-associated disease has been published
The FSBI RCMG Research and Counseling Department researchers together with their foreign colleagues published an article on deep-phenotyping of PIGT-associated disease.
Functional analysis of the PCCA and PCCB gene variants predicted to affect splicing
Researchers at the FSBI RCMG Laboratories of Hereditary Metabolic Diseases and Functional Genomics published an article on the functional analysis of variants in genes associated with propionic acidemia
A new molecular genetic mechanism for the pathogenesis of Niemann-Pick disease type C was discovered
Researchers at the Laboratory of Hereditary Metabolic Diseases and Functional Genomics first described a rare new molecular genetic mechanism for the pathogenesis of Niemann-Pick disease type C
Pathogenic variants in the AFF3 gene are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney and epileptic encephalopathy
The American Journal of Human Genetics (Impact-Factor 10.5) published this article about a new disease.
April 2021
RCMG will continue to study the genetic basis of schizophrenia pathogenesis of as part of a grant from the Russian Science Foundation
The RCMG Molecular Biology Laboratory receives a grant from the Russian Science Foundation.
A scientific publication describes bioethical issues of the possibilities and limitations of editing the human embryo genome for the first time in Russia
Vestnik RAMS journal published an article summarizing the scientists' views.
Mutations in the TMEM222 gene lead to a nervous system disorder
Genetics in Medicine (Q1, Impact-Factor 8,904) published an article about a new disease.
The DNA-diagnostics Laboratory first studied the structure and prevalence of BH4-dependent forms of hyperphenylalaninemia in the Russian Federation
PLOS ONE journal (Q2) published the results of the study.
March 2021
FSBI RCMG is in the first quartile (Q1) of the SCImago Institutions Rankings
Since March 2021 the FSBI Academician N.P. Bochkov Research Centre for Medical Genetics has been listed in the international database of research organizations The SCImago Institutions Rankings (SIR)
The FSBI RCMG Genome Editing Laboratory continues to enrich its collection of stem cells from cystic fibrosis patients
The researchers of the Genome Editing and Mutagenesis laboratories and Biobank SRC derived and fully characterized another culture of induced pluripotent stem cells from a cystic fibrosis female patient.
Evaluation of abnormal promoter DNA hypermethylation of the integrin, nidogen, and dystroglycan genes in breast cancer
The RCMG Epigenetics Laboratory researchers studied a number of genes to find out whether their methylation be one of the main causes of carcinogenesis.
The spectrum of mutations and phenotypes in the largest sample of Russian patients with a rare subgroup of mitochondrial diseases is described
Mitochondrion journal published the results of the research.
Mutations in the PHACRT1 gene are associated with multifocal epilepsy with infantile spasms and hypsarrhythmia
Clinical Genetics published the results of the joint study.
February 2021
Stem cell cultures from a Russian cystic fibrosis patient are now available at the European Stem Cell Bank
Researchers of the Genome Editing, Mutagenesis Laboratories and FSBI RCMG Biobank obtained and fully characterized cultures of induced pluripotent stem cells (iPSCs) of a cystic fibrosis patient with F508del and W1282X mutations in the CFTR gene.
A detailed clinical and genetic analysis of Russian patients with neurodegeneration with brain iron accumulation type 4
Publication in Parkinsonism & Related Disorders
Identification of a new gene DNAJC30, with mutations leading to Leber’s hereditary optic neuropathy
Joint study of the RCMG and FSBI Helmholtz Moscow Research Institute of Eye Diseases researchers
Y-chromosome analysis identified the medieval founder of the Western Kazakh clans
Journal of Human Genetics published an article by the Human Population Genetics Laboratory researchers.
