3 August 2022 #научная_деятельность 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»
3 August 2022 #научная_деятельность 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»
1 August 2022 #научная_деятельность Сотрудники МГНЦ описали уникальный молекулярно-генетический механизм патогенеза мукополисахаридоза IVB типа Результаты совместного исследования опубликованы в журнале npj Genomic Medicine.
1 August 2022 #научная_деятельность Сотрудники МГНЦ обнаружили и описали новый фенотип врожденной миопатии Результаты совместного исследования опубликованы в «American Journal of Medical Genetics Part A»
27 June 2022 #научная_деятельность 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.
6 June 2022 #научная_деятельность 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"
2 June 2022 #научная_деятельность 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
30 May 2022 #научная_деятельность 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 Buryatia
20 May 2022 #научная_деятельность The 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.
9 April 2022 #научная_деятельность Experts of the Genome Editing Laboratory at RCMG Prepared an Overview of the Latest Scientific Articles on Improving the Delivery Efficiency of CRISPR-Cas Components This is the first complete literature review dedicated to the delivery of a new form of genome editing Cas + sgRNA
4 March 2022 #научная_деятельность A joint research project dedicated to the syndrome of inverted duplication with an adjacent terminal deletion of the short arm of chromosome 8 was published by the scientists of the Research Centre for Medical Genetics An article published by “Biomedicines” journal
15 February 2022 #научная_деятельность 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 Genetics
7 February 2022 #научная_деятельность A 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 Foundation
3 February 2022 #научная_деятельность Researchers 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