Role of DNA Methylation Signatures in Genetic 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 November 2025 | Viewed by 8
Special Issue Editor
Interests: DNA methylation; episignature; genomic medicine; differentially methylated regions
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
I am delighted to announce a new Special Issue of the International Journal of Molecular Sciences, entitled “Role of DNA Methylation Signatures in Genetic Disorders”.
DNA methylation studies have rapidly advanced in identifying common methylation patterns shared by patients with the same genetic disorder, which clearly differ from those of healthy controls. These specific episignatures are emerging as valuable tools to help confirm or refute the pathogenicity of genetic variants associated with a given phenotype.
This Special Issue will focus on cohort-based analyses of patients with rare disorders, aiming to identify or validate disorder-specific DNA methylation signatures. Specifically, this Special Issue will focus on cardiovascular disorders (i.e., pulmonary arterial hypertension) and neurodevelopmental disorders (NDDs). We warmly invite the scientific community to contribute their research to this exciting and evolving field. However, since IJMS is a journal of molecular science, pure clinical studies will not be suitable for our journal.
Dr. Jair Tenorio-Castano
Guest Editor
Manuscript Submission Information
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Keywords
- DNA methylation
- genetic disorders
- episignature
- genomic medicine
- differentially methylated regions
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