The RCMG launched a free diagnostics program of tuberous sclerosis - a rare genetic disease
The Epigenetics Laboratory is used to diagnose the disease.
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December 2021
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.On November 12-13, 2021, the online Third National Forum of Medical and Public Organizations "Joining Forces to Combat Cystic Fibrosis" took place
The forum was held with international involvement and was dedicated to the memory of Professor N.I. KapranovThe RCMG team published Cystic Fibrosis monograph
A team of authors prepared and published the 2nd edition of the Cystic Fibrosis monograph under editorship of N.Yu. KashirskayaOn December 2, a Conference of young scientists of the Academician N.P. Bochkov Research Centre for Medical Genetics was held.
14 young researchers of our Centre presented the results of their own research.The first patients with a rare ophthalmologic disease - Leber congenital amaurosis type 2 and retinitis pigmentosa type 20 were identified in Russia
The RCMG researchers have identified the first Russian patients with a rare genetic disease and prepared them for gene therapy.
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
The RCMG Gold Medal “For Outstanding Contribution to the Development of Medical Genetics” was awarded to Professor Svetlana Ivanovna Kozlova, Doctor of medical science
Awarded by the RCMG Academic Council for outstanding contribution to the creation and development of medical genetics services in Russia, research in clinical genetics and doctors-geneticists training.RCMG held the III readings devoted to the 90th anniversary of academician Nikolai Pavlovich Bochkov
The scientists who worked with Nikolai Pavlovich and his students made presentations at the eventThe RCMG team congratulates S.V. Kostyuk, N.N. Veiko, and G.V. Shmarina with the academic rank of Associate Professor
Academic rank of Associate Professor awarded by order of the Ministry of Science and Higher Education of the Russian FederationRCMG 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 yearsReadings devoted to the 90th anniversary of Professor N.P. Bochkov will be held on October 23 at RCMG
The readings will be available onlinePublication 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 FSBI RCMG researchers are awarded with medals of the Ministry of Science and Higher Education of the Russian Federation
The awarding ceremony was held at the Academic Council meeting on 11 OctoberThe 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 resultsA 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 studyThe 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 LaboratoryRCMG hosted discussion on medical genetics at the Technosreda Festival as part of the Year of Science and Technology
The event took place on September 25 at VDNH Exhibition Centre
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 theDe 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 results of the VI Orphanica National Conference with international participation
The results of the VI Orphanica National Conference with international participationThe 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 researchersEuropean Journal of Translational Myology published an article with a review of orphan diseases
This is publication by the FSBI RCMG researchersLong 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 LaboratoryMolecular 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
Since September 1, 2021 FSBI Academician N.P. Bochkov Research Centre for Medical Genetics provides medical genetic consultation with the use of telemedicine technologies
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 vectorsThe 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 issuedA 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).The Tenth International Conference on Computational Molecular Biology "MCCMB 2021" is over
А. Filatova and M. Skoblov made oral presentations at the conferenceThe fourth international conference "SPLICING 2021" is over
The Functional Genomics Laboratory researchers made their oral presentations.
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 databaseThe 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.The 13th European Cytogenomic Conference ECA2021 is over
The RCMG researchers’ characterizing five cases of constitutional neocentric supernumerary marker chromosomes was awarded a prize.A new mutation leading to Zellweger syndrome has been identified at RCMG
Molecular Genetics and Metabolism Reports published a joint studyThe administration of FSBI RCMG sorrowfully informs about the tragic death of Oleg Pavlovich Balanovsky, chief researcher of the Population Genetics Laboratory at FSBI RCMG, Doctor of Biological Science, and Professor of RAS
The team of the Centre mourns for the untimely passing of Oleg Pavlovich.Conference "Tumor Markers: Fundamental and Clinical Aspects" with participation of RCMG researchers
Actively involved in the Conference were the team of Oncogenetics Department, Institute of Higher and Further Vocational Education and Epigenetics Laboratory.
June 2021
The team of FSBI RCMG congratulates Professor R.A. Zinchenko, Doctor of medical science, on awarding the title "Honored Scientist of the Russian Federation"
President of the Russian Federation by the decree awarded this title for her great contribution to the development of science and many years of diligent work.The first advanced training session for physicians was held in the Institute of Higher and Further Vocational Education FSBI RCMG
Subject of the session was Cystic Fibrosis Diagnosis and TherapyOn May 20-21, the XV National Congress “Innovative Methods of Cystic Fibrosis Diagnosis and Therapy. A Breakthrough to the Future” was held
About thousand Russian and foreign experts attended the Congress.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)The 44th European Cystic Fibrosis Congress culminated in Milan
The FSBI RCMG researchers actively participated in the Congress having made 14 presentationsRCMG, SKOPINPHARM and NOVARTIS have signed a Memorandum on the launch of a pilot neonatal screening project for spinal muscular atrophy and primary immunodeficiencies
The Memorandum was signed at the Petersburg’s Economic International Forum1,914 doctors and scientists from all over Russia attended the nationwide ORPHANICS Conference
The fifth Nationwide Multimedia ORPHANICS Conference on orphan diseases diagnosis and treatment was held on 18 May in MoscowA 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 diseasesPublication on the analysis of worldwide public trust indicators when collecting and sharing genomic data
Genome Medicine (IF 10.675) published the paper by an international team of authors, including V.L. Izhevskaya, Deputy Director of research.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.Nutricia SN International Virtual Congress "Healthy nutrition impact on health in the new reality" to be held from 21-22 May
Nutricia SN International Virtual Congress "Healthy nutrition impact on health in the new reality" to be held from 21-22 MayFunctional 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 acidemiaThe IX Congress of the Russian Society of Medical Geneticists will take place from 30 June to 2 July 2021
The Congress will be held offline in the Government of Moscow buildingA 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 COn 26 May, the Congress of Laboratory Medicine will host an oncogenetics section involving the FSBI RCMG researchers
The First National Congress with international involvement will take place in Moscow on 26 May at the Crocus Expo.Medical Genetics NGS 2020-21 Conference successfully concluded
The Fifth international research and practical conference traditionally was held in Suzdal.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.The Institute of Higher and Additional Vocational Education has commenced studies
The Institute was established at the beginning of the year as part of RCMG.Selection of participants in the "Science" track of the fourth "Leaders of Russia" open contest for the new generation of leaders has started
The contest is held by the Ministry of Science and Higher Education of the Russian Federation.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)O.P. Balanovsky held a live stream on the genetics of peoples
The stream took place on YouTube channel ScienceVideoLab following the report at the "Scientists against Myths" Forum.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 DisordersIdentification 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 researchersOn February 10, a round table "Support for patients with rare diseases in Russia: Results of the past year and plans for the future" will take place
The event will discuss relevant issues on rare diseasesThe Population Genetics Laboratory researchers took part in the “Honest Rating” Public Russian Television program (“Gamburgsky Schet”)
The TV-Program discussed the way to use the opportunitiesWebinar on oncology “Topical issues of molecular genetic diagnosis of cancer” will be held on 18 February 2021
The webinar program focuses on the ongoing challengesSummary of the results of the FSBI RCMG Young Researchers Contest 2020
Four young researchers of the Centre various laboratories have won the Contest this year.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.