Изучена геногеография маркеров гена LZTFL1, ассоциированных с тяжелым течением COVID-19
Работа сотрудников лаборатории популяционной генетики человека МГНЦ вышла в журнале "Вестник РГМУ"
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October 2022
The Teamwork of RCMG staff Devoted to the Assessment of the Population Frequency of Complex Allele in the CFTR Gene in the Russian Federation and Its Importance for Cystic Fibrosis Targeted Therapy Was Published
The article was published in the journal "The international Journal of Molecular Science"New Genetic Variants in the Gene COL6A2 Associated with Ullrich Congenital Muscle Dystrophy Were Described
The article with the results was published in the journal "International Journal of Molecular Science"Joint Work of RCMG staff on Characterization of Complex Chromosome Reconstruction in the Patient with PURA Syndrome Was Published
The article with the results was published in the journal «Genetics and Molecular Research»Population Geneticists Described the Y-chromosome Landscape of Central Asia
The article with the results was published in the journal GenesThe Y-chromosome Gene Pool of the Coast-dwellers’ Three Populations of Arkhangelsk Oblast Was Researched
The article was published in the journal «Vestnik of the RSMU»
September 2022
Employees of the Laboratory of Hereditary Metabolic Diseases at RCMG Described a New Genetic Version of MPS-PS in Association with Polish Colleagues
The article with the results was published in the journal «International Journal of Molecular Sciences»The New Molecular Mechanism of Diamond-Blackfan Anemia Development is Described
Teamwork was published in the journal Clinical Genetics
August 2022
RCMG Identified New Genetic Causes of Intellectual Disabilities and Proposed the Most Effective Way to Diagnose Them
The article was published in «International Journal of Molecular Sciences»Teamwork of the SCD for Cystic Fibrosis Devoted to the Research on Vitamin D Levels in Children with Juvenile Idiopathic Arthritis Was Published
The results of the work were published in the journal «Frontiers in Paediatrics»A New Mutation Has Been Identified and a New Molecular Mechanism for Developing Pro-opiomelanocortin Deficiency Has Been Described
The article was published in «The Journal of Clinical Endocrinology and Metabolism»RCMG Employees Described the Unique Molecular Genetic Mechanism of IVB Type Mucopolysaccharidosis Pathogenesis
The results are published in the journal «Genomic Medicine»Сотрудники МГНЦ обнаружили и описали новый фенотип врожденной миопатии
Результаты совместного исследования опубликованы в «American Journal of Medical Genetics Part A»
June 2022
The staff of the Laboratory of Human Population Genetics of the Research Centre for Medical Genetics created a system for determining the ethnogeographic origin of an individual for the populations of Northern Eurasia
The article was published in Frontiers in Genetics.Deep phenotyping of a patient with atypical Dravet syndrome revealed a new pathogenic variant putatively affecting splicing at the SCN2A gene
An article published by "Fronties in Genetics"The laboratory of Genome Editing of the Research Centre for Medical Genetics proposed an algorithm for selecting methods for the purification of adeno-associated viral vectors for gene therapy drugs
An article on the algorithm was published in the “BioEssays” journal
May 2022
The scientific team of the Research Centre for Medical Genetics received a grant from the President of the Russian Federation
As part of the project, it is planned to determine the estimated frequency of carriage of rare diseases of the endocrine system among the indigenous population of the Republic of North Ossetia-Alania and the Republic of BuryatiaThe Genome Editing Laboratory of the Research Centre for Medical Genetics became the first in Russia and the second in the world to obtain bronchial and pulmonary organelles
The technology will receive a Russian patent.
February 2022
Within the framework of the Russian Congress on Clinical Pharmacogenetics, a section dedicated to the memory of Oleg Balanovsky, Professor of the Russian Academy of Sciences was held with the participation of employees of the Research Centre for Medical G
One of the moderators of this section was Elena Balanovskaya, Doctor of Biological Science, Professor, Head of the Laboratory of Population Genetics of the Research Centre for Medical GeneticsA new approach to the treatment of Alzheimer's disease and to the treatment of consequences of traumatic brain injury will be studied at the Research Centre for Medical Genetics
The study was funded by a grant obtained from the Russian Science FoundationResearchers of RCMG Published One Hundred and Thirty-Six Articles in Journals Indexed by Web of Science in 2021
The results of the publication activity RSMG employeers for 2021 have been were summed up