Project nucleus PN19.29 (contract 1N/2019) SISPATH
Approaches to the systemic identification and/or validation of molecular targets for therapeutic strategies in the pathologies that have a major impact on your health
Coordinating institution: National Institute for Research and Development in the Field of Pathology and Biomedical Sciences, “Victor Babes” (IV),
Project Director: Prof. Mihail Eugen HinescuThe title of the project is a component PN19.29.01.03: Innovation, technology, concerning the detection of the genetic fingerprint applications in the monitoring of the tumor cells to the residual, and the regeneration of transplantation with post-transplant
Project budget PN19.29.01.03: 4420000 RON
In charge of the project PN19.29.01.03:
Dr Valeriu Cismasiu (2019-2020)
Dr. Laura Cristina-Ceafalan (2021-2022)
Team IV involved in the PN19.29.01.03:Sevinci Pop, Gisela Gaina, Cristina Niculite, Stefania Rogozea/Alexandra Popa (Gruianu), Ioana Lambrescu, Victor Ionescu, Aurora Arghir, Sorina Papuc, Alina Erbescu
Abstract
Molecular testing is essential for a complete diagnosis and targeted treatment of the patient. The body's response to treatment is difficult to predict; therefore, patients should be monitored by molecular tests in order to determine whether a treatment is effective or needs to be changed. The application of the large-scale use of modern methods of sequencing has led to major advances in the molecular diagnosis. Thus, it has been revealed to us of the mutations associated with different types of diseases, cancer, allowing for better diagnosis and prognosis of the most effective. The field is in a constant state of flux and the sets of mutations, and set out specific rules are set out annually in terms of their use in diagnosis and prognosis. The project is aim at the achievement of certain sets of molecular appropriate modern methods of quantitative PCR for the identification of genetic fingerprints of cells. The study is designed in such a way that (1) the results are likely to be useful in laboratory medicine, (2) the genes tested, to be the hallmark of a diverse spectrum of tumors, and (3), and the technique is optimized to be applicable to the quantification of the different types of genetic mutations.
Goals
The overall objective of the project is to produce and optimize the pack the assessment of genetic fingerprints (mutations) with modern techniques of PCR, and specific TaqMan, ddPCR, and the rhPCR. The specific objectives: to establish the methods for the analysis of genetic abnormalities for which there is no such procedure in the clinical laboratory; new ways with enhanced performance compared to those currently used in the clinic.
Pending patent
RO134998: Cismasiu VB, et al. 2019, and a Set of two primers and a probe for the detection and quantification of the expression of NPM1 mutation
RO135856: Cismasiu VB, et al. 2020; Fingerprinting of human genetics, through the detection and quantification of mutations of the type of inclusions makes and deletiilor
Publications
Budisteanu, M., Papuc, S. M., Erbescu, A., Iliescu, C., Dobre, M., Barca, D., Tarta-Arsene, O., Motoescu, C., Dica, A., Sandu, C., Anghelescu, C., Craiu, D., & Arghir, A. (2022). Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania. Experimental and therapeutic medicine, 23(1), 101. https://doi.org/10.3892/etm.2021.11024
Papuc, S. M., Erbescu, A., Cisleanu, D., Ozunu, D., Enache, C., Dumitru, I., Lupoaia Andrus, E., Gaman, M., Popov, V. M., Dobre, M., Stanca, O., Angelescu, S., Berbec, N., Colita, A., Vladareanu, A. M., Bumbea, H., & Arghir, A. (2021). Delineation of Molecular Lesions in Acute Myeloid Leukemia Patients at Diagnosis: Integrated Next Generation Sequencing and Cytogenomic Studies. Genes, 12(6), 846. https://doi.org/10.3390/genes12060846
Lambrescu, I., Popa, A., Manole, E., Ceafalan, L. C., & Gaina, G. (2022). Application of Droplet Digital PCR Technology in Muscular Dystrophies Research. International journal of molecular sciences, 23(9), 4802. https://doi.org/10.3390/ijms23094802
Gaina, G., & Popa Gruianu, A. (2021). Muscular dystrophy: Experimental animal models and therapeutic approaches (Review). Experimental and therapeutic medicine, 21(6), 610. https://doi.org/10.3892/etm.2021.10042
Gaina, G., Vossen, R. H. A. M., Manole, E., Plesca, D. A., & Ionica, E. (2021). Combining Protein Expression and Molecular Data Improves Mutation Characterization of Dystrophinopathies. Frontiers in neurology, 12, 718396. https://doi.org/10.3389/fneur.2021.718396
Lambrescu, J. M., Lambrescu, J. M., Martin, S., Martin, S., Acosta, L. N., Acosta, L. N., Child, S., & Child, S. (2022). Assessment of the peripheral blood cell parameters as a valuable tool in patients with neuroendocrine neoplasms. Neuro endocrinology letters, 43(1), 45-54.
Fertig, T. E., Chitoiu, L., Marta, D. S., Ionescu, V. S., Cismasiu, V. B., Radu, E., Angheluta, G., Dobre, M., Serbanescu, A., Hinescu, M. E., & Gherghiceanu, M. (2022). Vaccine mRNA Can Be Detected in Blood at 15 Days Post-Vaccination. Biomedicines, 10(7), 1538. https://doi.org/10.3390/biomedicines10071538
Ionescu, V. S., Popa, A., Alexandru, A., Manole, E., Neagu, M., & Pop, S. (2021). Dietary Phytoestrogens and Their Metabolites as Epigenetic Modulators with Impact on Human Health. Antioxidants (Basel, Switzerland), 10(12), 1893. https://doi.org/10.3390/antiox10121893
Session
1) Improved Chimerism Detection through RNA-based rhAmp genotyping kits. Ionescu, V., et al. Modern Biotechnical Advances for Human Health (BAHH2) Bucharest, 28-31.05.2019
2) the Unlimited Gene Expression Meta-analysis through Microarray Data Mining. Ionescu, V., et al. the 12th National Pathology Symposium, Berlin, 21-23.11.In 2019, the Abstract Book, page 86, WHICH 2601-0770;
3) Blending the precision of the RNase h-dependent PCR method with the accuracy of digital droplet PCR assay for the good, the bad, and the “clouds”. Lambrescu I, et al. the 12th National Pathology Symposium, Berlin, 21-23.11.In 2019, the Abstract Book, page 92, WHICH 2601-0770;
4) a Novel PCR-based tools in molecular diagnostics. Cismasiu V., it was the 12th of the National Pathology Symposium, Berlin, 21-23.11.In 2019, the Abstract Book, p36, WHICH 2601-0770;
5) Molecular characterization of acute myeloid leukemia by next-generation sequencing and microarray technologies. Arghir et al. The European Conference of Cytogenetics, Salzburg, Austria, from 6 to 9.07.In 2019, A Molecular Cytogenetics, Vol. 12, Supplement: 1, Meeting Abstract: 2. page of 12;
6) Sanger sequencing and fragment analysis for FLT3-ITD, molecular characterization in acute myeloid leukemia patients at diagnosis. Erbescu A, et al. The Conference of Medical genetics, Timisoara, romania, may 18th-20th.09.In 2019, the Romanian Journal of Rare Diseases, Community 2019, p. 47, WHICH 2068-5882
7) Molecular characterization of flt3-itd in acute myeloid leukemia patients at diagnosis, Erbescu A, et al. The Conference of the Romanian Association of Laboratory Medicine, Bucharest, 2020
8) Molecular characterization of acute myeloid leukemia by next-generation sequencing, Shoe, SM, et al. The Conference of the Romanian Association of Laboratory Medicine, Bucharest, 2020
English (UK) 
Română