Molecular Mechanisms and Genetics of Human Disease
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Genetics".
Deadline for manuscript submissions: closed (30 April 2026) | Viewed by 4971
Editors
Interests: molecular toxicology; gene and environment interactions and gene regulation; cardiovascular pharmacology and toxicology; genomic and molecular pharmacology of cancer; pharmacogenomics; biotechnology
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Genetic disorders vary greatly in their occurrence in different ethnic and geographic populations. For example, sickle cell anemia is more common among people of African descent, phenylketonuria is notably prevalent in Celtic and Northern European groups, Tay-Sachs disease has a higher incidence in Ashkenazi Jewish communities, and cystic fibrosis occurs more frequently in European and American Caucasian populations. Although many of these conditions have traditionally been explained as being the result of single-gene defects caused by point mutations, emerging evidence points to the critical role of larger chromosomal rearrangements (e.g., insertions, deletions, and duplications) in shaping disease etiology. Autosomal dominant neuropathies illustrate this principle particularly well. Charcot–Marie–Tooth disease type 1A (CMT1A) stems from a reciprocal duplication on chromosome seventeen, while hereditary neuropathy with a liability to pressure palsy (HNPP) arises from a corresponding deletion at the same locus. These structural variants are often the result of aberrant recombination events that can introduce either surplus or deficit copies of essential genes. Collectively, these observations indicate that genomic instability and rearrangements, rather than point mutations alone, can underpin the onset and progression of complex genetic disorders. Recently, the notion of structural rearrangements being a unifying mechanism for distinct clinical phenotypes has gained traction. Introducing copy number variations or altering gene organization can lead to both loss-of- and gain-of-function mutations, causing an extensive range of molecular and clinical outcomes. With this in mind, we invite contributions to this Special Issue that explore the molecular underpinnings of genetic disorders, especially those driven by genomic rearrangements. Of particular interest will be studies that elucidate how these structural alterations affect gene expression, protein function, and disease phenotypes, as they hold promise for advancing our understanding of pathogenesis and the development of innovative therapeutic strategies.
In this Special Issue, original research articles and reviews are welcome. Their research areas may include (but are not limited to) the following:
- Genomic variation in disease onset and progression;
- Alteration of chromatin architecture causing aberrant transcriptional regulation;
- Impaired protein interactions;
- Structural variations (insertion/deletion, duplication, and translocations).
I look forward to receiving your contributions.
Dr. Rais Ahmad Ansari
Dr. Ata Abbas
Guest Editors
Manuscript Submission Information
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Keywords
- genomic rearrangement
- genetic diseases
- molecular mechanism
- recombination
- gene duplication
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