Publication 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.
News
May 2021
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 May
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
The 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 building
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
On 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 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
On 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 diseases
The 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 opportunities
Webinar on oncology “Topical issues of molecular genetic diagnosis of cancer” will be held on 18 February 2021
The webinar program focuses on the ongoing challenges
Summary 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.
