New Year's video greetings from Valery Falkov, Minister of Science and Higher Education of the Russian Federation
Happy New Year!
News
December 2020
Conference “Gene Therapy: the Present and the Future”
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".
We congratulate the FSBI RCMG researchers on defense of dissertations
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.
Creation of Cartographic atlas of 45 pharmacogenetic markers prevalent in the population of Russia and neighboring countries
The Human Population Genetics Laboratory employees performed the work.
Analysis of genome risks variations associated with severe Covid-19 across the worldwide populations
Joint article by the researchers of the Human Population Genetics Laboratory was published on the preprint MedRxiv website.
The X Anniversary All-Russian Research and Practical Conference "Multidisciplinary Approach in the Diagnosis and Treatment of Neuromuscular Pathology" took place
The conference was actively attended by employees of the Research Centre for Medical Genetics.
The XII Congress of the Russian Society of Ophthalmology was held in early December
The FSBI RCMG researchers made reports to the XII Congress of the Russian Society of Ophthalmology.
The XI All-Russian Patient Congress "Vector of Development: Patient-centered Healthcare" took place at the end of November
The Congress discussed a great number of issues related to orphan diseases, treatment, diagnostics, and accessibility to patients.
The popular science article "In the DNA Trail: How Population Genetics Helps Forensic Science"
Priroda journal published a popular science article by Prof. O.P. Balanovsky in co-authorship with researchers of Human Population Genetics Laboratory.
November 2020
Data on MicroRNA in Gastric Cancer Development was analyzed
Diagnostics journal (IF 3.11; Q1) published an article of the researchers of the Laboratory of Complex Inherited Diseases Molecular Genetics.
On November 12-13, 2020 the Second All-Russian Forum of Medical and Public Organizations "Together in Fight to Combat Cystic Fibrosis" was held online
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.
Researchers of Academician N.P. Bochkov Research Centre for Medical Genetics took part in the 19th International Symposium of Hereditary Spastic Paraplegia Foundation
Due to the epidemiological situation, the symposium was online.
Oleg Balanovsky made a presentation on the 2nd Board Meeting of International Human Phenome Consortium
The Second Board Meeting of International Human Phenome Consortium has been online this year due to the pandemic.
On October 17-18, the V All-Russian Online Conference with international participation "Reproductive Health of Women and Men" was held.
Employees of the Research Centre for Medical Genetics departments actively participated in the Conference.
Describing the effectiveness of genomic editing in cells of cystic fibrosis patients
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.
Director of the Research Centre for Medical Genetics was elected on November 10, 2020
According to the results of a secret ballot, Sergey Ivanovich Kutsev was elected to the post of director.
On October 21, the Innovative Technologies in Pediatrics and Pediatric Surgery Russian Congress with international participation took place
На конгрессе приняли активное участие сотрудники различных подразделений Медико-генетического научного центра.
RCMG employees are involved in the development of biobanks network in Russia
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.
Proceedings of the All-Russian Multimedia Conference "Bioethics and Genetics: Challenges of the XXI Century" were published
The Conference was held on 16 October 2020 in the Russia Today press-center.
The first world’s report de novo missense mutation in the SYT2 gene causing distal hereditary motor neuropathy
Genes published the results of joint study by RCMG and Central Children’s Clinical Hospital researchers.
October 2020
Vladimir Strelnikov took part in the Lectorium of the Russian Science Foundation as part of the NAUKA 0+ All-Russian Festival
Recent results from the Russian Science Foundation grant “DNA Methylation in Assessment of Response to Neoadjuvant Cancer Chemotherapy” were reported during a lecture.
Прайм-тайм для праймированного редактирования
Сегодня мы знаем больше о неспецифическом действии праймированного редактирования.
The Research Centre for Medical Genetics has joined the international register of patients with neurodegeneration with brain iron accumulation
The international register includes leading scientific and clinical centers in Europe and North America.
Research on molecular mechanism of Becker myotonia development
BMC Medical Genetics published the results of the study.
Gold Medal "FOR OUTSTANDING CONTRIBUTION TO THE DEVELOPMENT OF MEDICAL GENETICS" was awarded to E.N. Imyanitov, Corresponding Member of the Russian Academy of Sciences, in 2020
On October 20, 2020, a solemn meeting of the Academic Council was held at the FSBI RCMG, dedicated to the award of the medal.
The research on various haploinsufficiency mechanisms in Russian patients with Pitt-Hopkins syndrome
European journal of Medical Genetics published the results of the study.
Analysis of candidate genes expected to be essential for melanoma surviving
Cancer Cell International published the results of the study.
Second Russian-German scientific and educational virtual exhibition
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.
An overview of currently available molecular CRISPR-Cas-tools for precise genome modification
The data were published as a review in the highly rated foreign journal Gene.
One possible cause for severe cystic fibrosis phenotype has been identified
The Genes journal published the results of the study.
CRISPR / Cas9 base editors systems were used for genome-wide search for pathogenic mutations
BMC Medical Genomics published the study.
Program of the Russian Multimedia Conference "Bioethics and Genetics: Challenges of the XXI Century" is published
The Conference will be held online on 16 October 2020.
The All-Russian online school with international participation dedicated to the 30th anniversary of the FSBI RCMG Cystic Fibrosis Research and Counselling Department took place
he Russian Society of Medical Geneticists and Academician N.P. Bochkov Research Centre for Medical Genetics were the organizers.
Defense of thesis works by FSBI RCMG researchers
E.V. Musatova and S.A. Repina obtained Candidate of Science degrees.
The best presentation at the "Reproductive Technologies Today and Tomorrow" International Conference
On September 8-12, 2020, the Human Reproduction Russian Association held the XXXth Annual International Online Conference «Reproductive Technologies Today and Tomorrow».
September 2020
Publication of an Educational Guide "Methodology of genetic and epidemiological study of inherited diseases and congenital malformations"
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.
Report at the International Symposium on Clinical Electrophysiology in Ophthalmology (ISCEV 2020)
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.
Description of a new phenotype of heavy anterior segment dysgenesis of the eye
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.
On October 16, 2020 the All-Russian Multimedia Conference "Bioethics and Genetics: Challenges of the XXI Century" will take place
We invite you to participate remotely in the work of the All-Russian MULTI-MEDICAL CONFERENCE "BIOETHICS AND GENETICS: CHALLENGES OF THE XXI CENTURY".
Свыше 4000 врачей и ученых приняли участие в третьей конференции «ОРФАНИКА»
Конференция прошла в онлайн-формате при поддержке Медико-генетического научного центра имени академика Н. П. Бочкова.
Вручение ведомственных наград сотрудникам ФГБНУ «МГНЦ»
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.
Optimizing the prediction of eye and hair color for North Eurasian populations according to DNA-analysis
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.
The results of the study on the global public perceptions of genetic data sharing about people and exchange of genetic data by different categories of researchers were published
Analysis of genomic data among populations is central to understanding the role of genetic factors in health and disease.
The Genome Editing Laboratory obtained and described the induced pluripotent stem cell line of a cystic fibrosis patient
Stem Cell Research (Q1, Impact-factor 4,489) published the results of their work.
Journal of Autism and Developmental Disorders published an article discussing Complicated MECP2 Gene Structural Rearrangement
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:
Awarding the title "Honored Scientist of the Russian Federation" to Prof. E.V. Balanovska, Doctor of Biological Science
August 2020
RFFI provided grants to support scientific research of RCMG postgraduate students
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 journal published the research on the families with autosomal dominant spastic paraplegias (SPG30)
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).
