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Happy New Year!

On 18 December 2020, an all-Russian multimedia conference "Gene Therapy: the Present and the Future" organized by the Association of Medical Geneticists of Russia and the FSBI Academician N.P. Bochkov Research Centre for Medical Genetics was held at the International Multimedia Press Center of the Russian News Agency "Russia Today".

Dissertation Council D 001.016.01 met on 21 December 2020 in the conference hall of the FSBI Academician N.P. Bochkov Research Centre for Medical Genetics.

The Human Population Genetics Laboratory employees performed the work.

Joint article by the researchers of the Human Population Genetics Laboratory was published on the preprint MedRxiv website.

The conference was actively attended by employees of the Research Centre for Medical Genetics.

The FSBI RCMG researchers made reports to the XII Congress of the Russian Society of Ophthalmology.

The Congress discussed a great number of issues related to orphan diseases, treatment, diagnostics, and accessibility to patients.

Priroda journal published a popular science article by Prof. O.P. Balanovsky in co-authorship with researchers of Human Population Genetics Laboratory.

Diagnostics journal (IF 3.11; Q1) published an article of the researchers of the Laboratory of Complex Inherited Diseases Molecular Genetics.

Employees of the FSBI "Medical and Genetic Research Center named after Academician N. P. Bochkov" took a direct part in the preparation and holding of the Forum, being members of the Organizing Committee of the event.

Due to the epidemiological situation, the symposium was online.

The Second Board Meeting of International Human Phenome Consortium has been online this year due to the pandemic.

Employees of the Research Centre for Medical Genetics departments actively participated in the Conference.

В журнале PLoS ONE (IF 2,74; Q2) опубликована статья сотрудников лаборатории редактирования генома, описывающая редактирование мутации F508del в гене CFTR в клетках больных муковисцидозом.

According to the results of a secret ballot, Sergey Ivanovich Kutsev was elected to the post of director.

На конгрессе приняли активное участие сотрудники различных подразделений Медико-генетического научного центра.

В журнале Biopreservation and Biobanking (IF=2,022) при участии сотрудника МГНЦ О.П.Балановского вышла статья о создании, задачах и работе Ассоциации российских биобанков NASBIO.

The Conference was held on 16 October 2020 in the Russia Today press-center.

Genes published the results of joint study by RCMG and Central Children’s Clinical Hospital researchers.

Recent results from the Russian Science Foundation grant “DNA Methylation in Assessment of Response to Neoadjuvant Cancer Chemotherapy” were reported during a lecture.

Сегодня мы знаем больше о неспецифическом действии праймированного редактирования.

The international register includes leading scientific and clinical centers in Europe and North America.

BMC Medical Genetics published the results of the study.

On October 20, 2020, a solemn meeting of the Academic Council was held at the FSBI RCMG, dedicated to the award of the medal.

European journal of Medical Genetics published the results of the study.

Cancer Cell International published the results of the study.

The exhibition is part of the Russian-German Year of Scientific and Educational Partnerships 2018-2020, held under patronage of the Minister of Foreign Affairs.

The data were published as a review in the highly rated foreign journal Gene.

The Genes journal published the results of the study.

BMC Medical Genomics published the study.

The Conference will be held online on 16 October 2020.

he Russian Society of Medical Geneticists and Academician N.P. Bochkov Research Centre for Medical Genetics were the organizers.

E.V. Musatova and S.A. Repina obtained Candidate of Science degrees.

On September 8-12, 2020, the Human Reproduction Russian Association held the XXXth Annual International Online Conference «Reproductive Technologies Today and Tomorrow».

The team of authors of the FSBI RCMG Academician N.P.Bochkov Research Centre for Medical Genetics published an Educational Guide "Methodology of Genetic and Epidemiological Study of Hereditary Diseases and Congenital Malformations" edited by R.A. Zinchenko, S.S. Amelina, S.I. Kutsev and E.K. Ginter.

On September 14-16, 2020, the 58th International Symposium on Clinical Electrophysiology in Ophthalmology (ISCEV 2020) was held in Canada, attended by scientists and doctors from the USA, Great Britain, China, Germany, France, Belgium, Russia, etc.

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.

We invite you to participate remotely in the work of the All-Russian MULTI-MEDICAL CONFERENCE "BIOETHICS AND GENETICS: CHALLENGES OF THE XXI CENTURY".

Конференция прошла в онлайн-формате при поддержке Медико-генетического научного центра имени академика Н. П. Бочкова.

22 сентября 2020г. состоялось торжественное заседание Ученого Совета ФГБНУ «МГНЦ», на котором были вручены ведомственные награды Министерства науки и высшего образования Российской Федерации и Министерства здравоохранения Российской Федерации нашим сотрудникам.

Prediction of eye and hair color based on genotype has become a recognized and widely used tool in forensic genetics, as well as in studies of ancient populations.

Analysis of genomic data among populations is central to understanding the role of genetic factors in health and disease.

Stem Cell Research (Q1, Impact-factor 4,489) published the results of their work.

Journal of Autism and Developmental Disorders (Impact factor 3.047 Q1 WOS) published an article by the researchers of DNA-Diagnostics Laboratory (headed by Prof. A.V. Polyakov, RAS corr. member), Epigenetics Lab (headed by V.V. Strelnikov, Doctor of biological sci.) and Cancelling Unit (headed by G.N. Matyuschenko) of FSBI RCMG Academician N.P.Bochkov Research Centre for Medical Genetics and Clinical Bioinformatics Laboratory, OOO Genomed LLC:

Petr Andreyevich Sparber and Daria Alexandrovna Yurchenko, the postgraduate students of the Research Center for Medical Genetics, won the RFFI contest for the best projects of fundamental scientific research carried out by young scientists studying at the postgraduate level.

BMC Neurology (Q1, IF 2.350) published an article by the researchers of FSBI RCMG various units including Research and Counseling Department (headed by E.L. Dadali, Doctor of med. sci.), DNA-Diagnostics Laboratory (headed by Prof. A.V. Polyakov, RAS corr. member) and Cancelling Unit (headed by G.N. Matyuschenko).

Neoplasma (Q4, IF1.771) published the results of a joint work by researchers of FSBI RCMG and A.N. Ryzhykh National Medical Research Center of Coloproctology.

ScientificReports (Q1, IF 3.998,) published an article being one of the first in the world, written by the researchers of the FSBI RCMG Epigenetics Laboratory (headed by V.V.Strelnikov, Doctor of biological sci.).

International Journal of Pediatric Otorhinolaryngology (Impact Factor 1.241, Q3) published an article by the researchers of the FSBI RCMG DNA-Diagnostics Laboratory (headed by A.V. Polyakov).

Genes journal (Impact Factor 3.759, Q2) published an article by the researchers of the FSBI RCMG Genetic Epidemiology Laboratory (headed by Prof. R.A.Zinchenko, Doctor of med. sci.).

GENES (IF 3.759 WOS Q2) published an article by the FSBI RCMG DNA-Diagnostics Laboratory (headed by A.V. Polyakov), Hereditary Metabolic Diseases Laboratory (headed by E.Yu. Zakharova), and Counseling Department (headed by G.N. Matyuschenko).

The American Journal of Human Genetics published an article disclosing the results of a large-scale study of genetic epidemiology of phenylketonuria. The FSBI RCMG researchers were also involved in writing thereof.

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.