Potential and prospects for using biomedical resource collections obtained from pediatric patients for clinics and research

Aim. To demonstrate the development and potential applications of bio­medical resource collections of pediatric patient biomaterials, as well as the potential for their differentiated use for clinical and research pur­poses in a multidisciplinary hospital setting at a federal research center.

Material and methods. The study included biomaterial from pediatric pa­tients and their first-­degree relatives, banked between 2016 and 2025 as part of research projects at the Almazov National Medical Re­search Center in the field of clinical genetics and pediatrics. De­oxy­ri­bo­nucleic acid (DNA) isolated from whole blood samples and dried blood spots was used for genetic testing using modern molecular genetic dia­gnos­tic methods.

Results. The potential of using bioresource collections of pediatric pa­tient biomaterial was demonstrated using familial cases of rare mo­no­genic diseases, for which previously collected biomaterial from the biobank was used to establish a diagnosis and determine follow-up strategies for family members, identify risks to future offspring, and re­ceive advance data on the management of patients with spe­ci­fic he­re­ditary syndromes. Additionally, the ability to predict new phe­no­ty­pes associated with a known gene, and conversely, to uncover the rela­tion­ship of new genes with a known phenotype, was demonstrated using examp­les of familial diseases, where biobank biomaterial enabled seg­re­gation analysis. Using biomaterial from cohorts of patients with a specific pathology, the potential for developing novel diagnostic al­go­rithms and laboratory test systems, a differentiated approach to se­lec­ting a targeted genetic panel for diagnosis, and the identification of new clinical and genetic disease features was showed. A founder mu­ta­tion was showed to be identified in a pathology determined in a spe­cific ethnic group, with the potential to describe the onset time and geo­graphic distribution.

Conclusion. The creation of bioresource collections obtained from pediatric populations is a complex, yet extremely important, clini­cal­ly necessary, and promising scientific task. Its implementation faci­li­tates translational research aimed at improving diagnostic methods, under­stan­ding the pathogenesis and progression of childhood diseases, and the influence of environmental factors on their development. It also faci­litates the search for new genetic causes of hereditary pathologies and the description of new phenotypes associated with known genes. It also identifies predictors of disease severity and prognosis. In the long term, it facilitates the search for novel therapeutic approaches and under­stan­ding the disease pathogenesis in adults.

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