Head of the laboratory- Vadim L. Surin
The Laboratory of Genetic Engineering of the NMRC for Hematology was founded in 1978 on the initiative of its first head, a student of Academician Dmitry G. Knorre, Doctor of Chemical Sciences, Professor, State Prize laureate, Nina I. Grineva. Between 1975 and 1978 the group of N. I. Grineva was at first an integral part of the Laboratory of Biochemistry (headed by Prof. N. A. Fedorov ), and then received an independent status of the group of molecular biology of leukemia under the directorate.
The main activity of the laboratory in the early years of its existence was the development of methods for the treatment of oncological diseases of the blood system, based on the targeted inactivation of oncogenes using alkylating derivatives of oligonucleotides. The experimental model in these studies was chronic myeloid leukemia (bcr/abl chimeric oncogene).
Later (especially in the period 2004-2005, when the laboratory was headed by Candidate of Biological Sciences, A.V. Misyurin), active research in the field of genetics of oncological and hereditary diseases of the blood system, as well as their practical molecular diagnostics, was added to the list of activities of the laboratory.
Over the past 20 years, one of the main directions of scientific and practical endeavors of the laboratory has been molecular genetic studies of hereditary diseases of the blood system both common (hemophilia A and B, beta-thalassemia, Willebrand’s disease) and rare (coagulopathy caused by a deficiency of various blood clotting factors, numerous hereditary disorders of thrombopoiesis, porphyria, sideroblastic anemia). A large collection of DNA samples (several thousand) of patients and their relatives has been collected and continues to be actively replenished. Using modern molecular biological methods, the spectra of mutations associated with the listed diseases in Russian patients have been determined or are at the stage of formation. For beta-thalassemia, the mutation spectra characteristic of Azerbaijan and Armenia have also determined. In cooperation with the clinical divisions of the NMRC for Hematology, practical gene diagnostics of the carriage of the listed diseases is constantly carried out, including prenatal (together with the centers of prenatal diagnostics of Moscow, Yekaterinburg, Novosibirsk and other Russian cities that perform chorion biopsy or amniocentesis).
Another area of activity of the laboratory is the study of genetic markers that determine the occurrence, progression and recurrence of oncological diseases of the blood (acute leukemia, multiple myeloma, lymphoma). Previously, the laboratory developed methods for determining the minimal residual disease using the analysis of clonally rearranged and mutated (in the case of myeloma) genes of heavy chains of immunoglobulins and carried out work on the study of molecular mechanisms of somatic hypermutagenesis.
More recently, when searching for pathogenic variants, along with classical Sanger sequencing, modern NGS technologies in the format of full-exome and targeted sequencing have been used in the laboratory.
LABORATORY STAFF:
Olesya S. Pshenichnikova – senior researcher
Ekaterina Y. Demidova – researcher
Valentina V. Solomashkina – leading specialist
Daria S. Selivanova – researcher
Daria M. Chernetskaya – researcher
Yulia M. Poznyakova – leading specialist
Tatiana V. Abramova – researcher
Olesya S. Mishina – specialist