Diagnosis, Management and Therapy of Rare Diseases
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 30 April 2026 | Viewed by 40
Special Issue Editor
2. Department of Medicine, Surgery and Health Sciences, University of Trieste, 34149 Trieste, Italy
Interests: clinical and molecular genetics; hereditary and multifactorial hearing loss; rare diseases
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
We would like to invite you to contribute to the following Genes Special Issue: “Diagnosis, Management and Therapy of Rare Diseases”.
More than 8500 rare diseases have been described to this date, and the advances in genomic analyses have substantially improved the chance of achieving a genetic diagnosis of these disorders. Of note, only approximately 5% of these conditions recognize an approved tailored treatment, limiting the possibilities to provide truly personalized management.
This Special Issue aims at focusing on the role of clinical and molecular genetics in clinically complex cases, solved by applying the most advanced sequencing technologies, for which molecular diagnosis deeply modified the treatment and care of patients.
In particular, this Special Issue includes, but it is not limited to, the following topics:
- Molecular mechanisms behind rare and ultrarare genetic diseases;
- Diagnosis, clinical features, and expansion of the phenotypic spectrum of rare and ultrarare genetic diseases;
- The clinical and molecular characterization of family members;
- Ethnic variability in rare and ultrarare genetic diseases;
- Gene-tailored therapeutic options (including pharmacogenomics);
- Clinical trials with which to develop new treatments.
We look forward to receiving your contributions.
Dr. Giorgia Girotto
Guest Editor
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
- rare and ultrarare genetic diseases
- genetic mechanisms
- gene-tailored management
- personalized therapeutic approaches
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.
- e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.
Further information on MDPI's Special Issue policies can be found here.
