Lyubov Tavokina, Head of the Molecular Cytogenetic Laboratory, Laboratory assistant at the ISIDA Clinic, took part in the 11th European Conference on Cytogenetics, which was held on July 1-4, 2017 in Florence, Italy.
European Cytogenetics Conference – this is the annual international congress of the European Society of Cytogenetics, which takes place in different European countries and gathers the best specialists in this field of genetics under its auspices.
Cytogenetics – this is a branch of genetics that studies the normal/abnormal structure of chromosomes, as well as those factors and mechanisms that can lead to chromosome breakdowns. The consequences of such “breakdowns” are also in the field of professional interest of cytogenetics.
“The purpose of my trip to Italy, at the European Cytogenetics Conference, was to get information about new methods of improving the diagnostic level of the laboratory, followed by the introduction of these methods into the work of the clinic.– says Lyubov Tavokina, head of the molecular cytogenetic laboratory, laboratory assistant at the ISIDA clinic. – Genetics in general and cytogenetics in particular are developing very rapidly. Participation in such events makes it possible to keep abreast of the latest scientific discoveries and, ultimately, provide patients with high-quality diagnostic services.”
The European Cytogenetics Conference-2017 gathered about a thousand participants from all countries of the European Community. Leading experts in the field of human cytogenetics, practicing cytogenetics came to Italy to listen and discuss reports on the main sections of cytogenetics:
- clinical cytogenetics;
- prenatal diagnosis;
- cytogenetics of animals and plants;
- issues of laboratory accreditation and external quality control;
- molecular mechanisms of chromosomal rearrangements;
- a highly sensitive method is a new generation of sequencing in cytogenetics.
All the reports had a high scientific level, expanded the understanding of the work of the cell genome as a whole, about the possibilities of highly sensitive tests (comparative genomic hybridization, a new generation of sequencing, etc.) in the diagnosis of hidden (small size) chromosomal breakdowns that are not diagnosed by traditional methods of classical cytogenetics. An entire section was devoted to the study of epigenomic factors that take part in the regulation of genes without affecting the structure of DNA.
The molecular cytogenetic laboratory at the ISIDA clinic has been successfully operating for 13 years. Laboratory specialists carry out prenatal fetal diagnostics for pregnant women from the high-risk group for chromosomal pathology, diagnose various groups of patients: if there are children with developmental defects in the family, reproductive problems. Therefore, reports on non-invasive prenatal diagnostics were of great practical importance for patients of the ISIDA clinic. The experience of the clinic convincingly proves that this method can only be screening and, if positive results are obtained (detection of a chromosomal abnormality in the fetus by the mother’s blood), it should be supplemented by the method of traditional prenatal karyotyping using amniotic fluid or other fetal tissue.
The participants of the 11th European Cytogenetics Conference also discussed the issue of introducing preimplantation genetic screening (PGS) into the routine practice of IVF clinics, which is very important for patients with various forms of infertility. The relevance of this issue is emphasized by the fact that the open phenomenon of chromosome mosaicism at the earliest stages of embryogenesis can negate the effectiveness of this test. Therefore, raising this issue at the Congress aroused the ardent interest of all its participants.
«Personally, the report of PeterLichter – “Mechanical aspects of chromothripsis” was of the greatest interest to me – Lyubov Tavokina continues to share her impressions about the Congress.
The phenomenon of chromotrypsis was discovered quite recently (2011, Philip Stephens) and is interpreted as a simultaneous cellular crisis, leading to the formation of complex complex chromosomal rearrangements. Initially, this phenomenon was discovered for cancer cells. In the future, the consequences of such catastrophic events (chromotripsis) were found in some cases of congenital balanced translocations and in the analysis of complex chromosomal rearrangements in individuals with developmental delay and/or mental retardation. This report echoed the message of scientists from Russia – I.Yu.Yurov et al. – “Chromothripsis as mechanism driving genomic instability mediatingbrain diseases”.
Based on the data obtained, the authors suggested that tissue instability of chromosomes may be the cause of a wide range of complex diseases, such as brain diseases, including Alzheimer’s, autism, mental retardation, etc.
“As a cytogenetic specialist, I understand that the diagnosis of such rearrangements will require the introduction of more sensitive methods into the laboratory practice. And IVF clinic patients, like no other, need the most thorough genetic diagnosis. The ISIDA clinic has been specializing in the treatment of infertility for 25 years. This means that our doctors are at the origins of a new life, which is born after treatment, often with the use of methods of assisted reproductive medicine. And this life should be healthy, it is for this purpose that we take part in events like the Congress of Cytogenetics held in Italy. And this is what every day of our work is dedicated to,” Lyubov Tavokina finishes her story about participating in the 11th European Cytogenetics Conference.
Tavokina Lyubov Vasilyevna, head of the molecular cytogenetic laboratory, a laboratory assistant, has almost 40 years of experience, is a candidate of biological Sciences, assistant of the Department of Medical and Laboratory Genetics of the P.L.Shupik NMAPO. Lyubov Vasilyevna is the author of more than 40 published scientific papers and one patent for an invention in the field of optimization of laboratory diagnostics, she is part of the group of scientific consultants of the interlaboratory quality control program “Cytogenetics”, which started in 2011.
Lyubov Vasilyevna regularly participates in scientific and practical seminars and congresses dedicated to human clinical cytogenetics, preimplantation genetic diagnostics, prenatal screening methods, etc.
At the ISIDA clinic, Lyubov Tavokina is engaged in the diagnosis of chromosomal pathology in patients with infertility, performs prenatal diagnosis of chromosomal pathology, comprehensive diagnosis of patients with habitual miscarriage, preimplantation genetic diagnosis.