Опубликована совместная работа сотрудников НКО муковисцидоза, посвященная исследованию уровня витамина D у детей с ювенильным идиопатическим артритом
Результаты работы опубликованы в журнале «Frontiers in Pediatrics»
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August 2022
Описан новый молекулярный механизм развития синдрома OBAIRH
Статья, посвященная совместной работе специалистов МГНЦ и НМИЦ эндокринологии, вышла в журнале «The journal of clinical endocrinology and metabolism»Сотрудники МГНЦ описали уникальный молекулярно-генетический механизм патогенеза мукополисахаридоза IVB типа
Результаты совместного исследования опубликованы в журнале npj 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