Personalized genetic diagnosis of hereditary neurological diseases
Year: 2025
Type: article
Abstract: Personalized medicine is methods for preventing of pathological conditions, diagnosing and treating based on the individual characteristics of the patient. Prevention of hereditary and congenital pathologies is the main goal of institutions and departments of medical genetic services. The need for genetic testing of children with congenital and hereditary diseases is 25,3%. The diversity of hereditary diseases was established based on the results of the study and analysis. The capabilities of the genetic laboratory are shown and the use of methods of molecular genetic diagnosis in children is scientifically justified. It has been shown that confirmation of more than 50% of genetic diseases by molecular genetic methods makes possibility to implement genotype-phenotype correlations and plan further medical observation of the child. The clinical effectiveness of whole exome sequencing to establish molecular diagnosis of hereditary and congenital pathologies was 73,3%. As part of the implementation of the strategy for the development of molecular genetic diagnostics, the spectrum of identified nucleotide sequence variants in genes responsible for hereditary and congenital pathologies was analyzed. Based on the obtained data and identified options, recommendations were given to doctors on the effectiveness of treatment, and individual rehabilitation programs were developed, in some cases excluding surgical correction of the defect in patients with movement disorders.
Authors: T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, A. A. Abramov
Institution: Pirogov Russian National Research Medical University
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4409863141