Year: 2025
Type: article
Abstract: This article provides a detailed overview of the main types of genetic diseases, methods for their diagnosis, and treatment options. Information is presented on monogenic, chromosomal, and polygenic diseases and their effects on the human body. The importance of clinical evaluation, genetic counseling, molecular testing, karyotype analysis, and prenatal diagnostic methods in diagnosing genetic disorders is emphasized. Additionally, pharmacological therapy, gene therapy, medical support and rehabilitation, as well as prevention and the role of genetic counseling in managing diseases are discussed. The article also reflects on modern genetic research and new technologies, particularly the potential future applications of CRISPR technology in treatment. As a result, early detection and effective management of genetic diseases are highlighted as crucial for improving human health.
Source: Современная наука и исследования
Author: Farida Raxmatboy qizi Muroddinova
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W6912080259
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