The Research Centre for Medical Genetics hosted an Open Day for students of the Faculty of Biology of Moscow State University

Leading specialists of the Research Centre for Medical Genetics spoke about their current work and about the perspectives that open up in medical genetics for future researchers and doctors.

Every year, 11,000 families undergo consultations at the Research Centre for Medical Genetics in frame of the state program of the Ministry of Science and Higher Education. The close interaction of the fundamental scientific research and the clinical practice of geneticists at the Research Centre for Medical Genetics makes it a leading medical genetic institution in Russia.

The aim of the Laboratory of Functional Genomics is the development of new approaches and methods for determining the functional significance of nucleotide sequence variants identified in patients. Petr Sparber, a junior researcher at the Laboratory of Functional Genomics of the Research Centre for Medical Genetics, talked about the methods that are currently used in cases where mutations of unknown significance are detected. These are the determination of enzyme activity, splicing analysis, the study of protein stability, and others. The students also got acquainted with specific clinical cases in which the Laboratory of Functional Genomics used a newly developed method to confirm the pathogenicity of a mutation and make an accurate diagnosis.

The Genome Editing Laboratory is focused on working with several gene mutations which lead to hereditary diseases. In particular, specialists are looking for ways to increase the efficiency of editing the F508del mutation in the CFTR gene. Arina Anuchina, researcher at the Genome Editing Laboratory of the Research Centre for Medical Genetics, spoke about the history of the development of genomic editing methods and the achievements of the laboratory.

Olga Shchagina, laboratory geneticist, leading researcher of the Laboratory of DNA Diagnostics of the Research Centre for Medical Genetics, discoursed upon the history of genetic research and first experiments in molecular genetic diagnosis of Duchenne myodystrophy, phenylketonuria and other diseases. She pointed out difficulties that arise at each stage of modern research, from preparing the material to interpreting the results. She stressed that today we live in a new era of medical genetics, when some hereditary diseases can not only be accurately diagnosed, but also successfully treated.

Maria Orlova, laboratory geneticist of the Laboratory of Molecular Genetic Diagnostics Number 3 of the Research Centre for Medical Genetics, dwelled in detail on methods for searching for the molecular causes of diseases, from studying frequent mutations to genome-wide analysis. Maria Orlova emphasized the importance of using of genetic trio studies (which involve the testing of samples from a proband and both parents) to search for mutations in particularly difficult cases. She also noted the advantage of the laboratories of the Research Centre for Medical Genetics: laboratory geneticists interact with clinicians, which makes it possible to quickly compare the clinical picture and the results of molecular genetic studies. In addition, the specialists have methods for analyzing the RNA at their disposal.

Diana Zheglo, researcher at the Mutagenesis Laboratory of the Research Centre for Medical Genetics, spoke about fundamental studies on the mutagenic effect of replication stress in somatic cells. She noted that the laboratory is studying the association between the mutagenic process and socially significant diseases: oncological diseases, Alzheimer's disease and others.

Sabina Khayat, senior researcher at the Laboratory of Genetics of Reproduction Disorders of the Research Centre for Medical Genetics, introduced the main research areas of the laboratory to students. She spoke about anomalies in the structure of male and female gametes and chromosomal anomalies in reproductive disorders. The students also got acquainted with particularly complex and successfully solved clinical cases in laboratory practice.

Vladimir Strelnikov, head of the Laboratory of Epigenetics of the Research Centre for Medical Genetics, spoke about the role of epigenetic studies in the diagnosis of rare diseases, methods for diagnosing diseases such as tuberous sclerosis and neurofibromatosis, which were developed in the laboratory and are now successfully used in clinical practice. Vladimir Strelnikov introduced the students to a promising method for predicting the effectiveness of preoperative chemotherapy - an epigenomic classifier of breast tumors.
The students also visited the center of shared use “Genome”, laboratories of genome editing, functional genomics, and genetics of reproductive disorders.

Mikhail Skoblov, head of the Laboratory of Functional Genomics, Ph.D.: “The Open Day does not set students the task of immediately choosing in which specific laboratory they want to continue their practice. We want them to form a correct understanding that along with the fundamental genetics that they are taught at the university, there is medical genetics that is actively developing today. And thanks to this development, it becomes possible to diagnose a rare hereditary disease. Long-term practice shows that after the Open Day, students come to the Research Centre for Medical Genetics, complete their theses, and many of them remain for postgraduate studies.”