Advances in Understanding the Genetic Basis of Rare Disorders: A Mini Review

Document Type : Review paper


1 Department of Biology, Faculty of Basic Sciences, Damghan Branch, Islamic Azad University, Damghan, Iran

2 Pediatric Department, University Hospital "Mother Teresa", Tirana, Albania

3 Biosciences Research Group, College of Health & Life Sciences, Aston University, Birmingham, United Kingdom


Background and aim: Rare disorders, often referred to as orphan diseases, pose significant challenges in terms of diagnosis and treatment due to their limited prevalence and understanding. This integrative review aims to provide an up-to-date overview of the progress made in unraveling the genetic underpinnings of rare disorders. By synthesizing recent research, our objective is to shed light on the genetic factors contributing to these conditions and explore the implications for diagnostics, therapies, and future research directions.
Methods: We carefully searched through many databases, looking at studies published until April 2023. We used specific words like "rare disorders," "genetic basis," "mutations," and "diagnosis" to find the right research articles. We then closely examined these studies to check how they were done, what genetic information they offered, and how they helped us understand rare disorders better.
Results: This review showcases the substantial progress achieved in deciphering the genetic origins of rare disorders. We explore various genetic mechanisms, including mutations, structural variants, and genomic alterations, contributing to the manifestation of these conditions. Additionally, we discuss the growing role of advanced sequencing technologies and bioinformatics in identifying rare disease-associated genetic variants. Furthermore, we highlight the impact of genetic discoveries on improving diagnostic accuracy, facilitating personalized treatment strategies, and fostering collaborative research initiatives.
Conclusion: Recent advances in genetics have significantly advanced our understanding of rare disorders, offering hope for individuals affected by these conditions. This integrative review underscores the pivotal role of genetic research in uncovering the mysteries of rare diseases and emphasizes its potential to drive innovations in diagnostics and therapeutics. As our knowledge continues to expand, the genetic insights gained hold the promise of improving the lives of those with rare disorders and inspiring further investigations into these enigmatic conditions.


Main Subjects

Volume 2, Issue 2
Special Issue: Abstract and Papers from ICBMS23 (Turkey), ICBM23 (Hungary), ICCMM23 (Italy)
Pages 235-241
  • Receive Date: 19 December 2023
  • Accept Date: 19 December 2023