GENETIC DISEASES: DIAGNOSIS AND TREATMENT

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.

Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2025-06-18
DOI
https://doi.org/10.5281/zenodo.15692907
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

GENETIC DISEASES: DIAGNOSIS AND TREATMENT

Zenodo (CERN European Organization for Nuclear Research)
Genomics and Rare Diseases
article

GENETIC DISEASES: DIAGNOSIS AND TREATMENT

article en

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.

Zenodo (CERN European Organization for Nuclear Research)
Openalex Percentile: Top 54%
Genomics and Rare Diseases
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.