Insights into Pediatric Genetics
A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".
Deadline for manuscript submissions: 31 January 2025 | Viewed by 78
Special Issue Editor
2. Institute of Clinical Medicine, National Yang-Ming Chiao-Tung University, Taipei 112304, Taiwan
3. Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan
4. Department of Medicine, Mackay Medical College, New Taipei City 25245, Taiwan
5. Department of Nursing, Mackay Junior College of Medicine, Nursing and Management, Taipei 112021, Taiwan
Interests: pediatric genetics; genetic sequencing; rare disorders; genetic diagnosis; precision medicine
Special Issue Information
Dear Colleagues,
The landscape of pediatric medicine has been reshaped by significant advances in genetic sequencing and bioinformatics, revealing deep insights into the genetic foundations of various childhood ailments, both common and rare. Our forthcoming Special Issue, entitled "Insights into Pediatric Genetics," is designed to offer an expansive view of the innovative research and substantial challenges that mark this vibrant field.
We welcome submissions from experts and scholars in forms such as original research, comprehensive reviews, engaging case studies, and brief communications. Key topics include the identification of new genes, relationships between genotypes and phenotypes, molecular diagnostics, screening in newborns, pharmacogenomics, genetic counseling, and ethical issues in pediatric genetic testing. We are particularly interested in contributions that utilize advanced techniques such as next-generation sequencing, single-cell genomics, epigenetic analysis, and various omics methods in pediatric populations.
This Special Issue aims to merge various threads of research into a unified story, enriching our knowledge of genetic disorders in children. Through fostering cross-disciplinary dialogue and the exchange of knowledge, we seek to deepen the exploration of genetic influences on child health. The knowledge derived from this work is expected to enhance diagnostic precision, improve prognostic accuracy, aid in risk assessment, and tailor more personalized treatments for affected youngsters. This Special Issue will be a critical asset for researchers, clinicians, and policymakers engaged in pediatric healthcare, setting the course for future investigations and therapies.
Dr. Chunglin Lee
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. Diagnostics is an international peer-reviewed open access semimonthly 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
- pediatric genetics
- genetic sequencing
- rare disorders
- genetic diagnosis
- precision medicine
