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Duchenne muscular dystrophy is one of the most common inherited muscular dystrophies. The cause of this disease with an X‑linked recessive type of inheritance is mutations in the DMD gene, leading to the absence of the dystrophin protein this gene encodes or its impaired function. Loss of dystrophin leads to severe degenerative processes in patients, especially in muscle tissue, with impaired muscle function, loss of ability to move independently, respiratory failure, cardiomyopathies, etc.The collective efforts of many researchers over the years since the 19th century, when the diseases was described, not allowed to achieve a cure or significantly influencing the trajectory of the illness. The only notable impact on the disease course has come with the integration of corticosteroid medications into Duchenne muscular dystrophy therapy. While their application can decelerate disease progression and extend the average life expectancy up to 30–40 years, it comes with substantial adversely affects influencing patients’ quality of life.Certain hopes were associated in recent decades with the development of etiotropic therapy for Duchenne muscular dystrophy, aimed at restoration of the dystrophin’s function. Some of such approaches were based on the overcoming of the effect of premature stop codons in the DMD gene using aminoglycoside antibiotics, ataluren, etc. Several subsequent studies were conducted to explore the applicability of exon‑skipping approaches in the dystrophin gene, aimed at excluding exons carrying pathogenic genetic variants. The rationale for these studies was the available information about a milder course of the disease associated with a truncated but functional dystrophin. The possibility of the pathology correction by means of introduction of the exogenous functional DMD gene copy from the outside (gene replacement therapy) has been under study since the beginning of the 20th century. One of the most promising directions in recent years was the development of approaches related to genome editing, which, unlike the methods mentioned above, allows for the permanent correction of the underlying cause of genetic diseases. Some of corresponding drugs have already received approval, while others, related to gene therapy, are at the stage of clinical trials.

Duchenne muscular dystrophy is one of the most common inherited muscular dystrophies. The cause of this disease with an X‑linked recessive type of inheritance is mutations of the DMD gene, leading to the absence of the dystrophin protein this gene encodes or its impaired function. Loss of dystrophin leads to severe degenerative processes in patients, especially in muscle tissue, with impaired muscle function, loss of ability to move independently, respiratory failure, cardiomyopathies, etc.More than 160 years have passed since the work of Guillaume‑Benjamin‑Armand Duchenne in the 19th century. Despite the efforts of many researchers who have developed various therapeutic approaches designed to alleviate the condition of patients if not cure it, few of them have significantly changed the course of the disease. Different approaches related to specific therapy of ischemia and fibrosis in affected muscles, correction of hormonal regulation of muscle tissue growth, therapeutic methods aimed at preventing damaged myocytes from excessive accumulation of calcium ions, which enhance proteolytic processes, suppression of oxidative stress in muscles, etc. have not yet shown high effectiveness both independently and in combination with glucocorticoids. The introduction of corticosteroid drugs made it possible to slow down disease development, but the average survival still does not exceed 30–40 years and patients spend many of them in a wheelchair. At the same time, the patients’ quality of life can be additionally diminished due to the common corticosteroids’ side effects.

Cardiomyopathy (CMP) is a common group of cardiovascular disorders. Genetic (primary) cardiomyopathies are related to abnormalities in more than 100 genes, including the DES gene encoding desmin protein. Desmin is an essential member of the intermediate filaments, ensuring the structural and functional integrity of myocytes. Mutations in the DES gene result in desmin-related cardiomyopathy with progressive course and poor prognosis. By now, specific therapy for cardiomyopathy has not been developed. Existing conservative and surgical treatment modalities target the rate of heart failure progression and sudden cardiac death prevention but have limited efficacy. The development of gene therapy and genome editing could allow for creating effective and specific methods of gene-based therapy for desminopathies. A number of studies have been published on the use of gene therapy for various genetic cardiomyopathies including those caused by the DES gene mutations, while genome editing has not been used yet. However, promising results have been obtained with CRISPR/Cas9 and TALEN editing systems to correct for “gain-of-function mutations” in some other genes, such as MYBPC3 and PLN. There is also evidence of the possibility to reduce the symptoms of desmin-related cardiomyopathy up to the normal function by knocking out the mutant DES allele, and preserved protein function provided by expression of the normal allele. We believe that genome editing approaches have an open perspective into the development of specific and effective methods to treat desminopathies.

Key words: chronic myeloid leukemia, BCR-ABL expression, automated GeneXpert method

Key words: chronic myeloid leukemia, BCR-ABL expression, automated GeneXpert method