The Biobank "Russian Collection of Biological Samples of Hereditary Diseases" was established as part of the Federal Scientific and Technical Program for the Development of Genetic Technologies for 2019-2030 and is supported by a grant from the Ministry of Science and Higher Education of the Russian Federation (Agreement No. 075-15-2025-481 dated May 29, 2025).
Since its inception, the biobank has become one of the largest biobanks of hereditary diseases in Europe in terms of the number of collected nosologies: it already contains samples from over 500 different diseases, while one of the most extensive European biobanks holds samples from over 300. For all samples in the All-Russian Collection, clinical information has been gathered using standard Human Phenotype Ontology (HPO) terms; additionally, in 2025, 500 records underwent validity checks. This year, new storage systems were purchased for the biobank, the unit's staff was expanded, and a new facility for cell culture work was opened.
The Russian Collection of Biological Samples of Hereditary Diseases initially combined samples collected by the Research Centre for Medical Genetics (Moscow) and the Tomsk National Research Medical Center of the Russian Academy of Sciences. In 2025, the Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University.
Hereditary diseases are classified as rare, or orphan, diseases with genetic causes. Their spectrum is diverse: pathogenic variants in different genes can lead to the same disease, or the same variant can cause different clinical manifestations. This requires in-depth scientific study. Some genetic variants leading to diseases are already well researched and described in the scientific literature. However, rare or even unique variants, for which no information exists in global databases, are encountered quite often. Studying each variant not only enables diagnosis in individual cases but also makes a significant contribution to global science. The biobank's work helps advance medical genetics and develop new approaches to the diagnosis and treatment of hereditary diseases.
In 2025, the Russian Collection of Biological Samples of Hereditary Diseases was expanded with 1,000 biomaterial samples from patients with disorders of genomic imprinting, including Angelman syndrome, Prader-Willi syndrome, Beckwith-Wiedemann syndrome, Silver-Russell syndrome, Temple syndrome, Kagami-Ogata syndrome, pseudohypoparathyroidism, transient neonatal diabetes mellitus, and others. Also among the samples transferred to the biobank is the DNA of the first Russian patient diagnosed by specialists at the Research Centre for Medical Genetics with paternal uniparental disomy of chromosome 16.
The biobank also collects biomaterial samples from patients with diseases included in the federal expanded neonatal screening program.
This year, for the first time, the biobank has included samples from patients with cerebrotendinous xanthomatosis, sitosterolemia, Smith-Lemli-Opitz syndrome, primary ciliary dyskinesia, SORD-related neuropathy, as well as samples from patients with combinations of rare genetic diseases.
The bioresource collection is regularly used for research that enables diagnoses in complex cases. For example, this year, thanks to the availability of skin fibroblasts in the biobank, it was possible to confirm a diagnosis of Miyoshi myopathy in two families, and to establish a diagnosis of X-linked hypophosphatemic rickets and carrier status for hypophosphatemic rickets with hypercalciuria in one patient. Due to the availability of various tissue types in the biobank (blood cells, fibroblasts, myoblasts), it was possible to diagnose and determine the molecular mechanism of pathogenesis in patients with skeletal formation disorders, including osteogenesis imperfecta, myopathy, Ellis-Van Creveld syndrome, and primary immunodeficiency.
"The main flow of patients with hereditary and congenital pathologies passes through the clinics of the Research Institute of Medical Genetics, Tomsk NRMC RAS, and the Research Centre for Medical Genetics. The creation and maintenance of a network biobank allows us to centrally and efficiently accumulate biological samples from patients with hereditary, including rare (orphan) diseases. Accumulating such a collection is critically important for the development of both fundamental and applied research in human genetics," commented Nikolay Skryabin, Candidate of Medical Sciences, Head of the Orphan Diseases Genomics Laboratory at the Research Institute of Medical Genetics, Tomsk NRMC RAS.
Nikolay Skryabin clarified that the bioresource collection contains samples from patients with monogenic diseases and chromosomal pathology. Collecting accompanying clinical information is equally important: this includes data on the course of the disease, results of instrumental and laboratory studies, including modern molecular genetic analyses such as whole genome sequencing.
"This comprehensive approach elevates research to a new level: we can analyze not individual cases, but large clinical cohorts. This significantly increases the statistical significance and value of the results obtained. Furthermore, our bioresource collection serves as a convenient platform for testing new diagnostic methods and therapeutic drugs, the development of which has been actively pursued in recent years," added Nikolay Skryabin.
Over the five years since the establishment of the bioresource collection, 4,924 samples have been deposited at the Tomsk branch of the network-based core facility, the Bioresource Collection of Biological Samples from Patients with Genetic Diseases. Biological samples are represented as blood and DNA from patients with monogenic pathology and their relatives. Additionally, patient cell cultures — fibroblasts and induced pluripotent stem cells — are collected. Since 2025, the collection of human blastocyst material and spontaneous abortus material has begun.
"The number of requests to the bioresource collection has increased significantly. While last year there were 330 requests, this year there have already been 449. In total, since the biobank began operating, over 100 scientific articles have been published based on research using its samples. All this indicates that the collected biological samples and cell cultures are in demand by both internal and external users," said Petr Sparber, Candidate of Medical Sciences, Head of the Functional Analysis Laboratory, Department of Functional Genomics, Research Centre for Medical Genetics (Moscow).
The bioresource collection enables scientific work aimed at a deeper understanding of the causes and mechanisms of hereditary disease development, particularly in cases where pathogenic variants are located in non-coding regions of genes. Furthermore, this year the biobank facilitated the testing of new domestically developed gene therapy drugs: two drugs for the treatment of spinal muscular atrophy and one for the treatment of Duchenne and Becker muscular dystrophy.
Specialists plan further expansion of Russia's largest clinically and genetically characterized bioresource collection of biomaterial samples from patients with genetic diseases.