Research Laboratory of Molecular and Cellular Modeling and Gene Therapy
Research Laboratory of Molecular and Cellular Modeling and Gene Therapy
Head of Laboratory: Anna Kostareva, MD, DSc.
Major task
To implement WCRC-based projects dedicated to deciphering the molecular mechanisms of congenital, rare and understudied human diseases.
The work based on modern technologies of molecular genetic analysis will be carried out using technologies of targeted and whole-exome sequencing, epigenetic profiling, transcriptional analysis, microRNA profile analysis, in-depth chromosome analysis through a microarray hybridization approach. The laboratory will use various cellular and animal models obtained using genome editing technologies and reprogramming methods, in particular, tissue-specific differentiated induced pluripotent cell models and genetically modified D. rerio models.
Focus areas
The laboratory is carrying out three scientific projects:
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Using multi-omics data to diagnose rare genetic diseases (project supervisor: Anna Zlotina)
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Creating models for genetically determined human diseases using induced pluripotent cells (iPCs) (project supervisor: Anna Kostareva)
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Developing approaches to the creation and personalized use of gene therapy drugs for congenital genetic disorders of the neuromuscular and cardiovascular systems (project supervisor: Natalya Smolina)
Specialists
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Anna Kostareva, MD, DSc, Head of Laboratory
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Renata Dmitrieva, PhD in Biology, Leading Researcher
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Anna Zlotina, PhD in Biology, Senior Researcher
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Alexandra Kozyreva, MD, PhD, Senior Researcher
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Natalya Smolina, MD, PhD, Senior Researcher
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Alexander Khudyakov, PhD in Biology, Senior Researcher
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Elena Ignatieva, Researcher
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Ksenia Perepelina, Researcher
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Alexander Boitsov, Junior Researcher
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Sergey Zhuk, Junior Researcher
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Anna Churkina, Junior Researcher
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Ksenia Sukhareva, Junior Researcher
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Yury Vakhrushev, Junior Researcher
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Yaroslav Dubrovsky, Research Assistant
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Oksana Ivanova, Research Assistant
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Margarita Komarova, Research Assistant
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Alexey Muravyov, Research Assistant
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Elizaveta Sivuschina, Research Assistant
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Natalia Rodina, Research Assistant
Newly developed and implemented technologies
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Next-generation targeted sequencing technologies
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Microarray-based comparative genomic hybridization (array CGH)
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Genome editing technologies
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Functional studies using induced pluripotent stem cells
Major publications
- Smolina N., Khudiakov A., Knyazeva A., Zlotina A., Sukhareva K., Kondratov K., Gogvadze V., Zhivotovsky B., Sejersen T., Kostareva A. Desmin mutations result in mitochondrial dysfunction regardless of their aggregation properties. Biochim Biophys Acta Mol Basis Dis. 2020; 24:165745. doi: 10.1016/j.bbadis.2020.165745. IF 4.352
- Zlotina A., Maslova A., Pavlova O., Kosyakova N., Al-Rikabi A., Liehr T., Krasikova A. New Insights Into Chromomere Organization Provided by Lampbrush Chromosome Microdissection and High-Throughput Sequencing. Front Genet. 2020; 11:57. doi: 10.3389/fgene.2020.00057. IF 3.258.
- Zlotina A., Melnik O., Fomicheva Yu., Skitchenko R., Sergushichev A., Shagimardanova E., Gusev O., Gazizova G., Loevets T., Vershinina T., Kozyrev I., Gordeev M., Vasichkina E., Pervunina T., Kostareva A. A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report. BMC Med Genomics. 2020; 13(1): 175. doi.org/10.1186/s12920-020-00821-x. IF 2.570
- Perepelina K., Klauzen P., Khudiakov A., Zlotina A., Fomicheva Y., Rudenko D., Gordeev M., Sergushichev A., Malashicheva A., Kostareva A. Generation of two iPSC lines (FAMRCi006-A and FAMRCi006-B) from patient with dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy associated with genetic variant LMNAp.Arg527Pro. Stem Cell Res. 2020; 43:101714. doi: 10.1016/j.scr.2020.101714. IF 4.489
- Khudiakov A., Perepelina K., Klauzen P., Zlotina A., Gusev K., Kaznacheyeva E., Malashicheva A., Kostareva A. Generation of two iPSC lines (FAMRCi004-A and FAMRCi004-B) from patient with familial progressive cardiac conduction disorder carrying genetic variant DSP p.His1684Arg. Stem Cell Res. 2020; 43:101720. doi: 10.1016/j.scr.2020.101720. IF 4.489
- Klauzen P., Perepelina K., Khudiakov A., Zlotina A., Fomicheva Y., Pervunina T., Vershinina T., Kostareva A., Malashicheva A. Generation of two induced pluripotent stem cell lines (FAMRCi005-A and FAMRCi005-B) from patient carrying genetic variant LMNA p.Asp357Val. Stem Cell Res. 2020; 43:101719. doi: 10.1016/j.scr.2020.101719. IF 4.489
Patents and inventions
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Patent No. 2554056 dated 20.06.2015
"A set of synthetic oligonucleotides for determining the nucleotide sequence of the coding part of the NKX2.5, CFC1, GATA4 genes and identifying mutations associated with orphan monogenic disorders underlying familial forms of congenital heart disease"
Authors: Kostareva A. A., Zlotina A. M., Khodyuchenko T. A., Urusova M. E., Kiselev A. M.
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Patent No. 2556832 dated 20.07.2015
"A set of synthetic oligonucleotides for determining the nucleotide sequence of the coding part of the DES gene and identifying mutations associated with desmin-related cardiomyopathies"
Authors: Kostareva A. A., Smolina N. A., Malashicheva A. B., Urusova M. E., Kiselev A. M.
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Patent No. 2529947 dated 10.10.2014
"Method for obtaining a smooth muscle cell culture"
Authors: Malashicheva A. B., Kostareva A. A., Zverev D. A., Kostina D. A., Uspensky V. E., Gordeev M. L., Urusova M. E.
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Patent No. 2206893 dated 20.06.2003
"Method for diagnosing hypertrophic cardiomyopathy"
Authors: Gudkova A. Ya., Mamaev N. N., Semernin E. N., Rybakova M. G., Kostareva A. A., Shlyakhto E. V.
Contacts
Anna Kostareva, Head of the Laboratory
e-mail: kostareva_aa@almazovcentre.ru
