Research in Genetic Causes of Adult-Onset 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: 30 June 2025 | Viewed by 432
Special Issue Editor
2. Dipartimento di Scienze Mediche e Chirurgiche, Alma Mater Studiorum Università di Bologna, Bologna, Italy
Interests: medical genetics; polycystic kidney disease; cardiomyopathies; hearing impairment; retinal dystrophy
Special Issue Information
Dear Colleagues,
While many monogenic adult-onset disorders have been studied for decades, many others have been discovered and described more recently due to the development of novel technologies for genomic analysis. Neurodegenerative diseases, cancer-predisposing syndromes, heart diseases such as cardiomyopathies, and kidney diseases such as autosomal dominant polycystic kidney disease are among the best-known examples of monogenic disorders. This is an exciting time for adult-onset genetic disorders, as new sequencing technologies are facilitating the accurate diagnosis of disorders and development of therapeutic opportunities.
This Special Issue aims to highlight recent research and innovations regarding the genetic causes of adult-onset disorders, particularly in relation to genomic approaches, mechanistic research that aims to validate genomic findings, specific therapeutic approaches related to the genetic cause, penetrance, and the varying expression of pathogenic variants within families.
We welcome the submission of original research, case studies, up-to-date reviews, and discussions concerning the implications of genomic findings in adult-onset disorders. The scope of this Special Issue includes, but is not limited to, the following topics:
- Methods to validate variants of uncertain significance;
- Methods to detect and validate non-canonical variants;
- Expansion of the phenotypic spectrum and its relationship with dual molecular diagnosis;
- The clinical and molecular characterization of family members;
- Estimates of disease penetrance using population cohort data;
- Gene-tailored therapeutic options (including pharmacogenomics).
Dr. Claudio Graziano
Guest Editor
Manuscript Submission Information
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Keywords
- ADPKD
- cardiomyopathy
- CADASIL
- amyloidosis
- MODY
- late-onset hearing impairment
- penetrance
- adult onset
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