Rare Genetic Disorders: Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 15 December 2026
Special Issue Editor
Special Issue Information
Dear Colleagues,
Rare genetic disorders are a heterogeneous group of disorders that affect a small proportion of the population but collectively represent a significant global health burden. Affected individuals and their families frequently experience prolonged diagnostic journeys, often referred to as “diagnostic odysseys,” and may present with complex, multisystem phenotypes. Therapeutic options are typically scarce, and when available, they may be limited in efficacy or associated with considerable challenges. As most rare diseases have a strong genetic basis, advancing our understanding of their molecular underpinnings is essential for improving diagnosis, elucidating disease mechanisms, and developing targeted treatments.
With the advent of multiOMICs approaches, the field is now better equipped to identify causal variants, uncover pathogenic pathways, and define clinically relevant genotype–phenotype correlations. Molecular diagnosis not only facilitates diagnosis but also provides critical insights into disease pathogenesis, enabling the identification of novel biomarkers and therapeutic targets.
In this Special Issue of Genes, we aim to highlight recent progress in the study of rare genetic disorders, with a focus on molecular diagnosis, mechanistic insights, and precision medicine applications. We welcome both review and original research articles addressing areas such as molecular and functional genomics, epigenetics, disease modeling, and innovative therapeutic approaches.
Dr. Francesca Clementina Radio
Guest Editor
Manuscript Submission Information
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Keywords
- genetic disorders
- rare disease
- neurodevelopmental disorder
- genotype-phenotype correlations
- precision medicine
- genomics
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