Genetic and Genomic Diagnostics for Rare Diseases
A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: 31 July 2025 | Viewed by 559
Special Issue Editor
Special Issue Information
Dear Colleagues,
Genomic technologies such as targeted, exome and short-read genome sequencing have revolutionized the care of patients with rare genetic diseases. However, more than half of patients remain undiagnosed. Rare diseases are heterogeneous, life-threatening or severely debilitating conditions that affect < 1 in 2000 individuals. Emerging research-based approaches such as long-read genome sequencing and optical genome mapping promise to improve the identification of disease-causing genetic variants. In addition, new omics technologies that measure the transcriptome, epigenome, proteome or metabolome are showing great potential for variant interpretation. With the rapid expansion of genetic testing options, the clinical community needs to be aware of their individual strengths and limitations, as well as remaining challenges, in order to select the appropriate diagnostic test, correctly interpret results, and drive innovation to fill research gaps.
This Special Issue aims to understand whether these multi-omics approaches are actually being integrated into clinical research and how these technologies are improving the interpretive power of genetic and genomic diagnostics for rare diseases.
Dr. Antonella La Russa
Guest Editor
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Keywords
- genome sequencing
- molecular diagnosis
- rare diseases
- multi-omics
- next-generation sequencing
- long-read RNA-Seq
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