Genetic Rare Diseases in Children
A special issue of Children (ISSN 2227-9067). This special issue belongs to the section "Translational Pediatrics".
Deadline for manuscript submissions: 30 October 2025 | Viewed by 417
Special Issue Editor
Interests: genetics; genetics and genomics diagnostic; clinical molecular genetics; whole exome sequencing; molecular genetic diagnosis of hereditary cardiovascular diseases, genetic blood disorders, and other genetic conditions
Special Issue Information
Dear Colleagues,
We invite submissions to this Special Issue, ‘Genetic Rare Diseases in Children’, aimed at advancing translational research and clinical understanding in this field. Genetic rare disorders, while individually uncommon, collectively pose significant challenges in pediatric healthcare and represent a growing area of scientific and therapeutic interest. This Special Issue seeks to bridge the gap between bench and bedside, encouraging contributions that reflect the interdisciplinary nature of this work.
We welcome original research, reviews, case series, case reports, and short communications that address (but are not limited to) the following topics:
- Novel gene discovery and disease mechanisms;
- Genotype–phenotype correlations;
- Advances in molecular diagnostics and newborn screening;
- Clinical trial design and therapeutic interventions, including gene- and RNA-based therapies;
- Ethical, psychosocial, and health policy considerations in rare disease care;
- Data sharing and collaborative approaches to improve diagnosis and care.
Dr. Wenying Zhang
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. Children 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 2400 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 genetic disorders
- pediatric genetics
- genomic medicine
- molecular diagnostics
- gene therapy
- precision medicine
- genotype–phenotype correlations
- translational research
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.
