Early Diagnosis and Advanced Therapies of Genetic Disorders
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".
Deadline for manuscript submissions: 31 December 2025 | Viewed by 1
Special Issue Editor
Special Issue Information
Dear Colleagues,
Since the introduction of next-generation sequencing technologies in the practice of clinical genetics during the last 15-20 years, there has been an explosive advancement in our ability to diagnose rare genetic disorders using comprehensive genetic and genomic testing. Today, new diagnoses of rare disorders are discussed with families on a daily basis in genetic clinics. In addition, newly developed approaches for managing rare disorders have emerged, including multiple protocols for gene delivery, gene editing, and gene suppression using nucleic acids or small-molecule agents. These new developments originate from our deeper understanding of the molecular basis of genetic disorders. The continued development and application of these new technologies in clinical practice require both knowledge of methodologies for rapid and early genetic diagnoses and a deeper understanding of the molecular basis of rare genetic disorders, as well as the strategies for their management.
This planned Issue aims to explore recent advances in the diagnosis and treatment of rare genetic disorders, the development of personalized treatments, and the advantages and challenges of various treatment strategies with current or potential direct application.
Dr. Milen Velinov
Guest Editor
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Keywords
- genetic disorders
- rare diseases
- disease diagnostics
- therapeutic targets
- gene variants
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