The selected professor is Ronald D. Cohn, who is the president and CEO of The Hospital for Sick Children or SickKids. He contributed to the overall development of clinical approaches for children with degenerative neuromuscular disorders, such as Duchenne muscular dystrophy (DMD). The techniques include whole-genome sequencing for enhancing clinical management and diagnostics in the field of pediatric medicine, targeted genome sequencing as a genetic test tool, and use of clinical genome and exome sequencing (CGES). In addition, he sees great prospects in applying Crispr/Cas9 for treatment developments for genetic disorders. Localization and cloning of the DNA sequence of the dystrophin gene open up fundamentally new diagnostic possibilities for Duchenne muscular dystrophy (DMD), based on the study of mutant alleles in patients, members of their families, or in putative heterozygous carriers of pathological mutations. This applies equally to perinatal diagnosis, which can be carried out using molecular methods of analysis at the earliest stages of fetal development. The same approaches are quite acceptable for preclinical diagnosis of the disease, which allows researchers and clinicians to develop and start a rational treatment tactic, as well as to effectively identify heterozygous carriers in high-risk families for the prevention of Duchenne myodystrophy. The decisive advantage of molecular diagnostics is its versatility, the ability to use any DNA-containing cells or tissues for analysis, and in principle, the analysis can be performed at any stage of ontogenesis, starting with the zygote stage. A serious problem for the diagnosis of heterozygous carriage is the case of gonadal mosaicism – the presence in a somatic cell of the gonad of a woman who carries mutations of the dystrophin gene, which, in turn, leads to the appearance of several generations of germ cells or oocytes with mutant and normal dystrophin genes. Such mutations can occur even at the level of primary germ cells, that is, in the early stages of the future development of the mother. It is practically impossible to assess the size of the aberrant clone of oocytes. If the mother of a patient with DMD cannot determine heterozygous carriage, then it becomes difficult to make a prediction regarding the health of the next child in the family. Modern molecular genetic methods can significantly improve diagnostics for determining the status of carriage in high-risk DMD families, making it more accurate and expanding the scope of its application. In order to determine the presence of Duchenne dystrophy, molecular biological methods are used to determine the exact location and type of mutation. Integrating a patient’s phenotype as a part of clinical data plays a major role in identifying the correct variant of CGES analysis (Bowdin et al. 1079). A biopsy of the patient’s tissue, used in complex cases, allows determining the presence and localization of dystrophin and the state of muscle tissue. However, monitoring the patient’s condition is also necessary during the treatment process. Repeated sampling of a biopsy is not practiced, as it can be difficult for a patient to tolerate, mo