Extracellular Vesicles in Genetic Diseases: Emerging Biomarkers and Clinical Applications

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 20 February 2026 | Viewed by 5

Special Issue Editors


E-Mail Website
Guest Editor
1. Università Cattolica del Sacro Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Rome, Italy
2. UOC Genetica Medica, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, 00168 Rome, Italy
Interests: genomic medicine; genetic diseases; liquid biopsy; extracellular vesicles; molecular biology; intellectual disability

E-Mail Website
Guest Editor
Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Università Cattolica del Sacro Cuore, largo F. Vito 1, 001668 Rome, Italy
Interests: fragile X syndrome; epigenetics; medical genetics; intellectual disability; rare diseases

Special Issue Information

Dear Colleagues,

Extracellular vesicles (EVs) are membrane-bound particles secreted by most cell types, present in various biological fluids. By transporting bioactive molecules such as proteins, lipids, RNA, and DNA, EVs play a crucial role in intercellular communication, reflecting the physiological or pathological state of their cells of origin. In the context of genetic diseases, the molecular analysis of EV content is emerging as a powerful tool for investigating disease mechanisms and identifying dynamic biomarkers.

In particular, growing interest in EV-associated microRNAs is opening new perspectives for disease monitoring, assessment of treatment response, and patient stratification. This type of cargo is currently being studied in several genetic conditions, including Duchenne muscular dystrophy, cystic fibrosis, and genetically based neurological disorders.

This Special Issue of Genes will focus on the biological and clinical potential of EVs in genetic diseases, highlighting their emerging role as mediators and biomarkers. We welcome original research articles and reviews that explore these promising aspects of EV biology in genetic pathologies.

Dr. Benedetta Niccolini
Prof. Dr. Elisabetta Tabolacci
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • extracellular vesicles
  • inherited diseases
  • EV-derived microRNAs
  • biomarkers
  • genetic disorders
  • patient stratification
  • therapeutic monitoring
  • disease progression
  • intercellular communication
  • molecular diagnostics

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers

This special issue is now open for submission.
Back to TopTop