Сотрудниками лаборатории популяционной генетики МГНЦ создана система для определения этногеографического происхождения индивида для популяций Северной Евразии
Статья опубликована в журнале «Frontiers in Genetics»
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June 2022
Оренбургская область стала участником пилотного проекта скрининга на СМА и ПИДы
В лаборатории МГНЦ уже проведено исследование свыше 6 000 образцов биоматериала новорожденных Оренбургской области20 июня 2022 года прошла встреча представителей ФГБНУ «МГНЦ» и Туркменистана
На встрече обсуждались вопросы совместного образовательного и научно-исследовательского взаимодействия ФГБНУ «МГНЦ» и Туркменистана.На форум «Генетические ресурсы России» в Санкт-Петербурге соберутся свыше 500 учёных России
Первый научный Форум «Генетические ресурсы России» пройдёт 21-24 июня 2022 года на базе Санкт-Петербургского научного центра РАНОткрыт набор на образовательную программу «Расширенный неонатальный скрининг»
Цикл проводит заведующая лабораторией наследственных болезней обмена веществ, д.м.н. Екатерина Юрьевна ЗахароваС Днём медицинского работника!
Дорогие коллеги! Поздравляем вас с праздником и желаем здоровья, терпения, благополучия и удачи!В Екатеринбурге стартовал массовый неонатальный скрининг на СМА и первичные иммунодефициты
Пилотный проект будет реализован на базе Клинико-диагностического центра «Охрана здоровья матери и ребенка»Сергей Куцев на ПМЭФ-2022 предложил создать в региональных Минздравах специализированные отделы для работы с фондом «Круг добра»
Данный вопрос обсуждался в рамках сессии «Нередкий разговор о редких заболеваниях: перспективы лекарственной терапии»Сергей Куцев на ПМЭФ - 2022 поддержал воссоздание в России производственных аптек
Возрождение производственных аптек позволит решить часть проблем пациентов с наследственными болезнями обмена веществВ МГНЦ выявили 200 пациентов с редким генетическим заболеванием туберозный склероз
Диагностическая программа по туберозному склерозу запущена в МГНЦ в начале 2022 годаProfessor Elena Kondratieva, Head of the Scientific and Clinical Department of Cystic Fibrosis, took part in the international conference "Scientific and practical aspects of the development of pediatrics and neonatology
The international conference "Scientific and practical aspects of the development of pediatrics and neonatology", held on June 10-11, 2022 in Almaty (Kazakhstan).New media project of the Research Centre for Medical Genetics - "At the genetic level" podcast
We explain in layman's terms the basic concepts of medical geneticsDeep 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 General Meeting of the Russian Academy of Sciences summed up the results of the election of new members of the Academy
According to the results of the elections, the director of the Research Centre for Medical Genetics, Sergey Ivanovich Kutsev was elected an academician of the Russian Academy of SciencesThe 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
6 patients with spinal muscular atrophy were identified during the first month of the pilot project of neonatal screening for SMA (spinal muscular atrophy) and primary immunodeficiencies
A pilot screening project for spinal muscular atrophy and primary immunodeficiencies is being implemented in the Vladimir and Ryazan regions, the Krasnodar Territory and the Republic of North Ossetia-AlaniaThe 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 BuryatiaScreening for spinal muscular atrophy (SMA) and primary immunodeficiencies will be carried out in the Republic of North Ossetia-Alania
The project will be implemented with the participation of specialists from the medical genetic consultation of the Republican Children's Clinical Hospital of North Ossetia-Alania.The Research Centre for Medical Genetics will announce preliminary results of a pilot project of mass neonatal screening for spinal muscular atrophy (SMA) and primary immunodeficiencies
May 30, 2022, a press conference “The first month of the pilot project of neonatal screening for SMA and primary immunodeficiencies. First patients” will be hold at the Research Centre for Medical GeneticsThe Laboratory of Epigenetics and the Laboratory of Molecular Genetic Diagnostics Number 2 of the Research Centre for Medical Genetics met the international laboratory quality control requirements of the European Molecular Genetics Quality Network (EMQN)
The provider was EMQN, a non-profit organization that provides external quality control services in domain of genetic research since 1998The Research Centre for Medical Genetics hosted an Open Day for students of the Faculty of Biology of Moscow State University
The Research Centre for Medical Genetics Open Day is organized annually by specialists of the Laboratory of Functional Genomics for students of medical universities and biological facultiesThe conference "Bronchiectasis: cystic fibrosis and not only..." brought together global audience of more than 600 listeners
On May 13-14, 2022, the city of Kazan hosted the conference “Bronchiectasis: cystic fibrosis and not only…”.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.Образовательный цикл «Клинико-генетические аспекты наследственной дистрофии сетчатки»
Цикл пройдет 19 и 20 мая 2022 годаA Cycle of Professional Development for «Rare Chromosomal Anomalies: Small Supernumerary Marker Chromosomes» Has Been Opened
The Department of Cytogenetics and Chromosomal Diseases of the Institute of Higher and Supplementary Professional Education at RCMG conducts a cycleThe Staff of RCMG’s Scientific and Clinical Department for Cystic Fibrosis Met with the Representatives of the Ministry of Healthcare of the Republic of Tatarstan on May 12, 2022
The meeting was held within the framework of the conference «Bronchoectasis: cystic fibrosis and not only...».A Pilot Project for Neonatal Screening on Spinal Muscular Atrophy (SMA) and Primary Immunodeficiency (PID) Was Launched in Krasnodar Krai
The pilot project will be implemented on the basis of the Kuban Inter-regional Medical Genetic Counselling
April 2022
RCMG Experts Identified Patients with a Rare Disease that Suffered Henri de Toulouse-Lautrec for the First Time in Russia
The prevalence of this disease is one person per million in the population.Sergey Kutsev, Director of the Research Centre for Medical Genetics, Was Appointed as Deputy Chairman of Higher Attestation Commission (HAC)
Mikhail Mishustin, the Prime Minister of the Russian Federation, signed an order to approve a new composition of the Higher Attestation Commission (HAC) on April 22, 2022Mass Neonatal Screening for Spinal Muscular Atrophy and Primary Immunodeficiency Pilot Project Started
The first regions to join the pilot project «Mass Neonatal Screening for Spinal Muscular Atrophy (SMA) and Primary Immunodeficiency (PID)» were Vladimir and Ryazan Oblasts.The International Day of DNA is celebrated every year on April 25
Three papers were published on the structure of DNA in the issue of Nature journal on April 1953: one on the Rosalind Franklin group, the second on the Maurice Wilkins group, and the third on James Watson and Francis Crick.Премия Правительства Москвы молодым ученым
Регистрация заявок на конкурс открыта с 18 апреля по 15 июля 2022 годаExperts 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 + sgRNAThe Public Chamber of the Russian Federation Held Hearing on the Topic: «The Role of Genetic Technologies in the Prevention of Hereditary Diseases at the Stage of Pregnancy Planning: Issues of Accessibility and Information»
Vera Izhevskaya, Deputy Director for Scientific Work at the Research Centre for Medical Genetics made a presentation «Ethical aspects of genomic technologies for screening on heterozygous mutations leading to hereditary diseases»RCMG Belongs to the TOP-10 Among the Russian Leading Medical Research Centres According to the International Ranking of Scientific Institutions The SCImago Institutions Rankings (SIR)
The Centre takes the ninth place out of all Russian medical research institutions.
March 2022
The Recruitment of Audience for the Cycle of Professional Development "Hereditary Metabolic Diseases: Modern Approaches to Diagnostics and Treatment" Is Opened
The Department of Biochemical Genetics and Hereditary Metabolic Diseases of the Institute of Higher and Additional Professional Education of the Research Centre for Medical Genetics conducts a qualification upgrading course on the topic "Hereditary metabolic diseases: modern approaches to diagnostics and treatment”.Sergey Kutsev Said: «The Aim of Geneticists Today - «To Set a Trap», to Identify Patients With Suspicion of Hereditary Diseases and to Make the Right Diagnosis»
National conference on the theme «Diagnostics and Treatment of Orphaned Diseases» took place at the International Multimedia Centre “Russia Today” on March 24, 2022.The staff of the Research Centre for Medical Genetics Congratulates Ekaterina Zakharova and Vitaly Kadyshev With the Awarding the Badge «Excellence in Healthcare»
The Ministry of Healthcare of the Russian Federation decided to award the badge «Excellence in Healthcare» Ekaterina Zakharova and Vitaly KadyshevThe Recruitment of Audience for the Cycle of Professional Development "Hereditary Ophthalmopatology in Clinical Practice" Is Opened
The Ophthalmogenetics Department of the Institute of Higher and Supplementary Professional Education at the Research Centre for Medical Genetics conducts a qualification upgrading courseWithin the 48th Scientific Session in CSRIoGE «Children’s Roots of Adult Problems» Passed the Section "Ethical Aspects of Hereditary Syndromes Diagnostics" on March 4, 2022
The moderator of the section was the Deputy Director for scientific work of the Research Centre for Medical Genetics, Doctorate in Medical Sciences, Vera IzhevskayaInformation for Citizens of Ukraine and Stateless People Forced to Leave Ukraine in an Urgent and Mass Manner
All children who suffer from cystic fibrosis and came from Ukraine to Russia can get medical care on the basis of the scientific and clinical department of cystic fibrosis at the Research Centre for Medical Genetics.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” journalOn March 2, 2022, an online conference dedicated to Rare Disease Day was held
On March 2, 2022, an online conference dedicated to Rare Disease Day was held at the International Multimedia Press Center of the «Rossiya Segodnya» International Information Agency.
February 2022
Rare Disease Day
About 7,000 rare (orphan) diseases have been described to date, and new ones appear in the medical literature every day.The RCMG Cystic Fibrosis Scientific Clinical Department Met with the Head of the European Register of Cystic Fibrosis Patients on February 16, 2022
The meeting took place on the eve of the 10th anniversary of the Russian Register of cystic fibrosis patients.The Results of 2021, the Launch of New Diagnostic Programmes and New Methods of Diagnostics of Rare Diseases Were Announced in the RCMG
A press conference was held in the press-centre of IIC «News» dedicated to the International Day of Rare (Orphan) Diseases on February 24, 2022RCMG and the Charity Fund «The Circle of Well»: Accurate Diagnostics for Effective Care of Patients with Rare Diseases
A press conference dedicated to the International Day of Rare (Orphan) Diseases is held in the press centre of IIC “Izvestiya” on February 24, 2022 at 14.00.On February 18, 2022, an online conference "The Experience of Organizing Care for Patients with Cystic Fibrosis in Russia and Kazakhstan" was held
On February 18, 2022, the staff of the Scientific and Clinical Department of Cystic Fibrosis of the Research Centre for Medical Genetics held an online conference "The Experience of Organizing Care for Patients with Cystic Fibrosis in Russia and Kazakhstan.Results of the first month of the Tuberous Sclerosis Diagnostic Program
On February 14, 2022, a press conference was held at the press center of “Izvestia” multimedia information center and highlighted the topic of “The Launch of the Tuberous Sclerosis Diagnostic Program”.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 GeneticsRecruitment for advanced training cycle "Hereditary Metabolic Diseases: Modern Approaches to Diagnosis and Treatment" is open
The Department of Biochemical Genetics and Hereditary Metabolic Diseases of the Institute of Higher and Additional Professional Education of the Research Centre for Medical Genetics conducts a qualification upgrading course on the topic "Hereditary metabolic diseases: modern approaches to diagnostics and treatment”.RCMG Organized the First Patient’s Conference on Landuzi-Degerin Muscle Dystrophy
More than fifty patients and their families attended.Experts Discussed the Future of Neonatal Screening in the Russian Federation
On February 8, 2022, the International Multimedia Center of IIA «Russia today» held a press conference on «Russia and the World: Achievements of Science in the Field of BiomedicineRussian Science Day
RСMG congratulates all scientific community of medical geneticists and employees with a professional holidayA 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
January 2022
New Support Measures for Students and Postgraduate Students
The Ministry of Science and Higher Education of the Russian Federation has developed a websiteSergei Kutsev: “Institute of Higher and Supplementary Professional Education (IHSPE) of the Research Centre for Medical Genetics (RCMG) Becomes a Leader in Education of Human Resources for Medical Genetics “
The President of the Russian Federation, Vladimir Putin, has recently ordered to approve a set of measures that could provide the country with the highly qualified human resources for genetics until June 1, 2022.Portal Orphanet Has Registered a New Inherited Eye Disease - Congenital Aphakia, Iris Hypoplasia, Microphthalmia, and Microcornea Syndrome
The disease was described by the employees of the genetic epidemiology laboratory of the Research Centre for Medical GeneticsThe Support Programme for Patients with Hereditary Retinal Dystrophy, Launched in 2020, Will Continue in 2022
The programme is free of charge for patients and helps identify previously undiagnosed severe clinical forms of retinal pathology.Seven People Who Finished Their Postgraduate Study at the Research Centre for Medical Genetics Defended Theses in 2021
The topics chosen by our postgraduate students for their theses have great research potential.The International Postgraduate Students Day
Today, January 21, 2022, is the International Postgraduate Students Day.FSBI RCMG postgraduate student was granted a scholarship from the President of the Russian Federation
The research was focused on a technology of producing bronchial and pulmonary organoids from induced pluripotent stem cells isolated from cystic fibrosis patients with a corrected F508del mutation in CFTR gene.Sergey Kutsev, the Director of the Research Centre for Medical Genetics, Took Part in Gaydar’s Economic Forum XIII
This year's Forum program included a strategic session “Rare rules”. Providing care for orphan patients”.MRNA Analysis Revealed a New Pathogenic Variant in the EIF2S3 Gene Leading to MEHMO Syndrome
The results of the joint work of the RSMG employeers were published in scientific journal "European journal of Medical Genetics"