Gene Therapy Approaches in Haploinsufficiency Disorders
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 October 2025 | Viewed by 33
Special Issue Editor
Interests: clinical genetics; medical genetics; cytogenomics; next-generation sequencing technologies applied to human genetics; epigenetics; genotype–phenotype correlation studies in genetic diseases; genetics of intellectual disability and autism; genetics of epilepsy; genetics prenatal diagnosis
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Special Issue Information
Dear Colleagues,
Haploinsufficiency disorders (HDs) are a class of genetic diseases associated mainly with intellectual disability, developmental anomalies, metabolic dysfunctions, or tumorigenesis. The pathogenic mechanism involves the insufficient expression of one or more genes, resulting in transcript levels reduced to approximately half of normal. Human genetic variation does not only comprise single nucleotide variants (SNVs) or allelic variation at a single genetic locus. The inherent structure of the human genome, characterized by the presence of low copy repeats (LCRs), predisposes to non-allelic homologous recombination (NAHR) between flanking regions, leading to genomic rearrangements such as deletions and duplications. Although less frequently reported, non-homologous end joining (NHEJ) can also contribute to structural alterations. Despite mechanistic differences, these genomic and transcriptional alterations converge on a common outcome: the disruption of gene dosage balance, with downstream effects on essential cellular and molecular pathways. This Special Issue will focus on avenue gene therapy strategies aimed at restoring functional mRNA and protein levels to rescue the phenotype, with particular attention to molecular innovations such as gene augmentation, RNA therapeutic oligonucleotides (e.g., SINEUPs, ASOs), CRISPR-based transcriptional activation, epigenetic modulation, and even complementary pharmacological strategies modulating disrupted signaling pathways.
Dr. Paolo Prontera
Guest Editor
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Keywords
- haploinsufficiency disorders
- molecular medicine
- gene dosage imbalance
- RNA-based therapy
- CRISPR activation
- transcriptomic regulation
- epigenetic modulation
- gene therapy
- neurodevelopment
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