This February 28 is Rare Disease Day. Rare or orphan diseases include those diseases that affect a small part of the population. In Russia, nosology (diseases) with a prevalence of less than 10 cases per 100 thousand people are attributed to this type of diseases.
Due to insufficient knowledge about the pathology of the disease, diagnosis is delayed, which often leads to early and irreversible complications. We tell you which projects of Russian scientists are aimed at improving the diagnosis of orphan diseases and their treatment.
Tomsk National Research Medical Center (Tomsk NRMC): diagnosis of orphan diseases based on genome analysis
«Prompt diagnosis of rare genetic diseases is extremely important, since it becomes possible to start treatment at the early stages of the disease, prevent disability of patients and improve their quality of life,» said Vadim Stepanov, Director of the Tomsk NRMC, Corresponding Member of the Russian Academy of Sciences.
Currently, the center is developing diagnostic technologies for various genetic diseases, including cystic fibrosis, osteogenesis imperfecta and Wilson's disease.
As part of the national project «Science and Universities», three youth laboratories were opened in the Tomsk NRMC. One of them is the Laboratory of Genomics of Orphan Diseases of the Research Institute of Medical Genetics. Here they are working on the study of the fundamental foundations of the etiology and pathogenesis of rare genetic diseases. The research is based on the generation of large data on the personal genomes of patients, taking into account regional and ethnic specifics. In addition, scientists are developing and introducing into clinical practice new molecular genetic techniques for the diagnosis of orphan diseases based on genome analysis, in particular, next-generation sequencing.
New equipment allows to conduct research at a high level. The equipment was purchased including at the expense of the national project "Science and Universities". So, as part of the upgrade of the instrument base, a sequencer, a device for microfluidic analysis, and equipment for working with cell cultures were purchased.