Advances in Pediatric Genetic Disorders
A special issue of Children (ISSN 2227-9067).
Deadline for manuscript submissions: 20 January 2026 | Viewed by 241
Special Issue Editors
2. Laboratory of Medical Genetics, UMHAT St. Marina, Hristo Smirnenski blv 1, 9000 Varna, Bulgaria
Interests: rare diseases; dysmorphology; cancer genetics; neurogenetics
Special Issue Information
Dear Colleagues,
The study of pediatric genetic disorders has seen transformative advancements over the past few decades, driven by breakthroughs in genomics, bioinformatics, and precision medicine. Historically, these disorders were often poorly understood, with limited diagnostic tools and therapeutic options available. Today, our growing ability to decode the genetic underpinnings of childhood diseases has illuminated the pathophysiology of rare and complex conditions, providing new avenues for targeted interventions and preventative care.
This Special Issue aims to bring together cutting-edge research and comprehensive reviews that explore recent progress in understanding, diagnosing, and treating pediatric genetic disorders. The scope includes novel insights into disease mechanisms, advancements in diagnostic technologies such as whole-genome sequencing, and innovative therapeutic strategies, including gene editing and personalized medicine. Additionally, we seek to address ethical considerations and the integration of genetic counseling into pediatric care.
We invite submissions of original research, clinical studies, and critical reviews that highlight advances in genetic testing, biomarker discovery, therapeutic innovation, and multidisciplinary approaches to care. By showcasing pioneering work, this Special Issue seeks to contribute to the evolving landscape of pediatric genetic medicine and inspire further innovation in the field.
Dr. Mariya Levkova
Dr. Sonya Galcheva
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 250 words) can be sent to the Editorial Office for assessment.
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
- pediatric genetic disorders
- genomic medicine
- precision medicine
- gene therapy
- diagnostic innovations
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