Research Topic · Peer-Reviewed

Genetic Disorders

Genetic disorders are diseases caused by abnormalities in the genome, ranging from single-gene mutations and small insertions or deletions to chromosomal aberrations and complex polygenic predispositions. They may be inherited in autosomal dominant, autosomal recessive, X-linked, or mitochondrial patterns, or arise …

Curated from this journal's research 📚 10 peer-reviewed articles cited Cited 14× across the literature 🔖 ISSN 2326-0793 🗓 Reviewed July 2026

Overview

Genetic disorders are diseases caused by abnormalities in the genome, ranging from single-gene mutations and small insertions or deletions to chromosomal aberrations and complex polygenic predispositions. They may be inherited in autosomal dominant, autosomal recessive, X-linked, or mitochondrial patterns, or arise de novo through somatic and germline mutation. Mechanistically, pathogenic variants disrupt protein structure, enzymatic activity, or gene regulation, producing loss-of-function, gain-of-function, or dominant-negative effects. Research in this field spans Mendelian conditions and the genetic component of common multifactorial disease. Representative work characterizes inherited bleeding disorders arising from mutations in blood coagulation factors and their regulatory proteins, surveys genetic polymorphisms in patients with epilepsy, and examines polymorphism-dependent relationships such as MS4A6A genotype in alcohol-use disorder. Additional studies address the molecular and metabolic pathogenesis of familial combined hyperlipidemia and its link to metabolic syndrome, alongside evidence-based advocacy and preconception care for affected populations. Core methods include karyotyping, targeted and genome-wide sequencing, linkage and association analysis, and functional validation of candidate variants. Classification by inheritance mode, affected pathway, and penetrance underpins genetic counseling, prenatal and carrier screening, molecular diagnosis, and emerging approaches in gene-targeted and personalized therapy for heritable disease.

Research published in this journal

10 peer-reviewed articles, ranked by relevance. Each links to its DOI.

How this research is being cited

The 10 articles above have been cited 14 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.

A sample of recent works citing this journal's research on Genetic Disorders, linking to each citing work.

Editorial oversight

Curated from peer-reviewed research published in Proteomics and Genomics Research (ISSN 2326-0793).

Journal editorial board
Sutopa Dwivedi · United States Liuyang Wang · United States Juan Sainz · Spain

This page summarises published research for orientation; it is not medical or professional advice.