News

В журнале “BMCNeurology” опубликована статья сотрудников научно-консультативного отдела (зав.- д.м.н., проф. Е.Л. Дадали), лаборатории ДНК-диагностики (зав.- чл.-корр. РАН, проф. А.В.Поляков) и консультативного отделения (зав.- Г.Н.Матющенко) ФГБНУ «МГНЦ»

«DNA methylation markers panel can improve prediction of response to neoadjuvant chemotherapy in luminal B breast cancer»

В журнале «International Journal of Pediatric Otorhinolaryngology» опубликована статья сотрудников ФГБНУ «МГНЦ», в которой представлено клиническое описание одной из самых больших выборок пациентов с мутациями в гене STRC в мире.

В журнале «Genes» (impact factor 3.759, Q2) опубликована статья сотрудников ФГБНУ «МГНЦ», в которой у пациентов с врожденной аниридией и синдромом WAGR доказывается преимущественно отцовское происхождение аллелей с de novo хромосомными делециями.

В журнале GENES опубликована работа сотрудников ФГБНУ «МГНЦ», описывающая семейный случай миастенического синдрома – редкого рецессивного заболевания.

В журнале “The American Journal of Human Genetics” опубликована статья с участием сотрудников ФГБНУ «МГНЦ» с результатами масштабного исследования генетической эпидемиологии фенилкетонурии.

In Clinical Nephrology journal (RINC: 0,476) the researchers of the FSBI RCMG Hereditary Metabolic Diseases Laboratory (headed by E.Yu. Zakharova, Doctor of med. sci.) have for the first time in Russia proposed and described the application of selective screening method for Fabry Disease diagnosis in dried blood spots.

The program includes reports and lectures by leading Russian specialists in medical and human genetics.

Valery Falkov, the RF Minister of Science and Higher Education, presented the Strategic Academic Leadership Program based on the principles of integration and cooperation of research and educational organizations, as well as principles of competition and openness.

Frontiers in Cell and Developmental Biology (IF 5.206, Scopus Q1) published an article by the researchers of the FSBI RCMG Molecular Biology Laboratory (headed by S.V. Kostyuk, Doctor of biological science) who for the first time published data on the influence of large domain 1q12 on the chromatin movement and adaptive response inhibition.

Biomedicines (impact-factor 3.331, ScopusQ1) published an article by the researchers of the FSBI RCMG Epigenetics Laboratory (headed by Strelnikov V.V., Doctor of biological science).

Journal of Medical Genetics» (impact-factor 5.899, Q1) published an article by the researchers of the FSBI RCMG Genetic Epidemiology Laboratory (headed by Prof. R.A.Zinchenko, Doctor of med. sci.)

The 26th White Nights International Ophthalmological Congress took place in St. Petersburg on May 25 - 29, 2020.

On May 27, Moscow hosted the Second Russian Multimedia Conference "ORPHANICA", one of the largest forums in Russia devoted to rare (orphanedic) diseases.

Academician N.P. Bochkov Research Centre for Medical Genetics invites you to listen to on-line lectures by researchers of the Helmholtz Zentrum München (Helmholtz Centre Munich), which will take place on 25, 28 and 29 May 2020.

Gene (impact-factor 3.331, Q2, IF 3.331) published an article by the researchers of the FSBI RCMG Genetic Epidemiology Laboratory (headed by Prof. R.A.Zinchenko, Doctor of med.sci.): Analysis of CFTR mutation spectrum in ethnic Russian CF patients

The Russian Federation Register of Cystic Fibrosis Patients has been kept since 2011.

Diagnostics journal (IF 2.489, Q2) published an article by the researchers of the FSBI RCMG Hereditary Metabolic Diseases Laboratory (the Lab Head is E.Yu. Zakharova, Doctor of medical science)

Journal of Inherited Metabolic Disease Reports (Scopus database journal index) published an article by the FSBI RCMG Hereditary Metabolic Diseases Laboratory researchers

On April 23, 2020 the All-Russian webinar, "COVID-19 Infection and Cystic Fibrosis" was held.

On April 16, 2020, an International Webinar on the Management of Cystic Fibrosis Patients in COVID-19 was held. The teleconference brought together cystic fibrosis experts from all over the world.

The Congress was held online on April 6-9, 2020.

Landouzy-Dejerine muscular dystrophy (FSHD) is the third most common among hereditary muscle diseases and has its own specific features both in clinical signs and in genetic causes of its occurrence.

FSBI RCMG has taken the following measures in order to prevent and control the COVID-19 new coronavirus infection spread in the territory of the Russian Federation

Organizers of the round table were the FSBI RCMG Bochkov Research Centre for Medical Genetics and the Center for Scientific and Information Studies on Science, Education and Technology of INION RAS.

Sergey Ivanovich Kutsev, Doctor of medical science, Corresponding member of RAS, Chief external expert in medical genetics of the Russian Ministry of Health, Director of Bochkov Research Centre for Medical Genetics in his interview with Rossiyskaya Gazeta spoke about the problem for diagnosis and treatment of orphan hereditary diseases in Russia.

Scientific Reports (impact-factor 4.122, Q1) published an article by the Epigenetics Laboratory researchers (the Lab Head is V.V. Strelnikov, Doctor of biological science):

Mitochondrion (IF 3,5; Q2) published an article by the FSBI RCMG Hereditary Metabolic Diseases Laboratory researchers (the Lab Head is E.Yu. Zakharova, Doctor of medical science):

Clinica Chimica Acta (IF 2.735, Q2) published an article by the FSBI RCMG Hereditary Metabolic Diseases Laboratory researchers (the Lab Head is E.Yu. Zakharova, Doctor of medical science):

Molecular Biology Reports (IF 2.107, Q3) published an article by the researchers of the Genome Editing Laboratory (the Lab Head is S. A. Smirnikhina, Candidate of medical science).

The FSBI RCMG Genetic Epidemiology Laboratory researchers (the Laboratory Head is Prof. R. Zinchenko, Doctor of medical science) received two certificates of state registration when performing work under the grant of the Ministry of Education and Science

Familial Cancer (IF 2.2, Q3) published an article by the FSBI RCMG Functional Genomics researchers (the Lab Head is M.Yu. Skoblov, Candidate of biological science): Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family

The Medical Spring – 2020, Russian Scientific and Practical Conference with international participation took place on February 7-8, 2020 at Sechenov University (Moscow).

Educational module in cystic fibrosis clinical practice (Preceptorship in Cystic Fibrosis) based on the University Children's Hospital was held on February 10-11, 2020 in Zurich (Switzerland) for 25 doctors from Eastern Europe (Slovenia, Poland, Hungary, Czech Republic, Slovakia and Russia).

February 6-8, 2020. The 17TH annual meeting of the European Cystic Fibrosis Society Diagnostic Network Working Group took place in Utrecht (the Netherlands).

The winter meeting of experts of the European Cystic Fibrosis Society (ECFS). Winter Meetings (Patient Registry, CTN, and Standards of Care) took place on January 23-25, 2020 in Brussels (Belgium).

On January 13, 2020, a formal meeting of the FBSI RCMG Academic Council took place, dedicated to the 80th anniversary of Professor Evgeny Konstantinovich GINTER!

The XX Scientific and Practical Neuroophthalmological Conference “Actual Issues of Neuroophthalmology” (Visual analyzer: anatomy, physiology, pathology)" was held in Moscow on January 24, 2020.

The Genes and Cells Journal (Impact Factor 0.914, Q3) published an article by researchers of FBSI RCMG Genome Editing Laboratory (Lab Head is S.A. Smirnikhina, Candidate of med.sci.):

On January 17-18, 2020, the IX International Educational Consensus on Respiratory Medicine in Pediatrics took place in Ivanovo

International Journal of Molecular Sciences (Impact Factor 4.183, Q2) published an article by FBSI RCMG Genetic Epidemiology Laboratory (headed by Prof. R.A. Zinchenko, Doctor of med. sci.):

16 января 2020 г. в Пресс-центре ИТАР-ТАСС прошла пресс-конференция с участием сотрудников ФГБНУ «МГНЦ», посвященная обсуждению результатов научной работы Центра в 2019г.

Diagnostics Journal (Impact factor 2.489, Q2) published an article by researchers of the FBSI RCMG Laboratory of Complex Inherited Diseases Molecular Genetics (headed by Prof. A.V. Karpukhin, Doctor of medical science):

On January 12, 2020, Professor Evgeny Konstantinovich Ginter, Doctor of Biological Science, Scientific Director of the FBSI Bochkov Research Centre for Medical Genetics, Honored Scientist of the Russian Federation, Academician of the Russian Academy of Sciences, turned 80!

Conference of young researchers from FBSI Bochkov Research Centre for Medical Genetics took place on December 10-11, 2019.