New Developments in Pediatric Clinical Genetics and Metabolic Diseases
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Genetic Diagnosis".
Deadline for manuscript submissions: 25 November 2025 | Viewed by 3
Special Issue Editors
Interests: lysosomal disorders; metabolic diseases; newborn screening tests; pediatric genetics
Interests: Germline genetics and genome; Somatic genetics and genome Transcriptome; Epigenome; Biochemical genetics, metabolome, and proteome; Phenotypes; Environmental factors; Clinical outcomes
Special Issue Information
Dear Colleagues,
It is recognized that approximately 1 in 20 infants are born with a rare genetic condition, and of those infants, ~70% of these rare disorders begin in childhood (under the age of 18 years). Of the ~7000 recognized rare genetic disorders, which are growing in number with the advent of whole genome sequencing technologies, some are more familiar and affect a higher number of patients in the rare disease community (such as cystic fibrosis-/CFTR-related disorder, Duchenne muscular dystrophy, etc.) to exceedingly rare conditions where only a few cases have ever been reported worldwide (such as Generalized Arterial Calcifications of Infancy (GACI), YARS1-related infantile-onset multisystem neurologic, endocrine, pancreatic disease, etc.).
Around 20% of known conditions are due to disruptions of biochemical pathways leading to metabolic disorders that may have potential treatments. With the evolution of new techniques for the analysis of metabolites and the assessment of the function of biochemical pathways, in addition to the wider availability of whole exome and genome sequencing, our ability to recognize and diagnose disorders earlier than ever before and to detect milder presentations of conditions has grown immensely in recent years. This has also allowed us to develop new treatments for disorders that we once believed were managed symptomatically only and to implement these treatments early in the course of disease, allowing for maximal benefit. With the rapid evolution of gene therapies, including gene addition via AAV and lentivirus-mediated delivery and, more recently, the development of CRISPR technology for direct treatment of human disease via gene editing, many of the disorders we currently see, and even those that are yet to be discovered, may be easily treatable or even curable. This makes early detection and awareness of available treatment options crucial.
This Special Issue on “New Developments in Pediatric Clinical Genetics and Metabolic Diseases” will provide an updated overview, novel insights, and critical perspectives on the pathophysiology, diagnosis, and treatment of rare inherited diseases in infants and children. Given the complexity and broadness of these topics, contributions from experts in the field through research papers and reviews are welcome.
Dr. Laura L. Konczal
Dr. Chen-Han Wilfred Wu
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
- inherited metabolic disease
- gene therapy
- CRISPR
- mRNA
- pediatric genetics
- rare inherited disease
- whole genome sequencing
- diagnosis of rare disorders
- treatment of rare disorders
- newborn screening
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.
