Pediatric Rare Diseases: Genetics and Diagnosis
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: 15 September 2025 | Viewed by 68
Special Issue Editor
Special Issue Information
Dear Colleagues,
Genetic factors are fundamental in the diagnosis of many pediatric rare diseases, as approximately 70% of these conditions present in childhood. Recent advances in genomic sequencing technologies have significantly improved the ability to diagnose many of these rare diseases, but approximately 50% of pediatric cases remain undiagnosed. This highlights the continued challenges in the field and the urgent need for more effective diagnostic tools, as well as the integration of genomics with various omics technologies in order to obtain more accurate diagnoses. The correct referral of patients to specialized medical genetics units, along with comprehensive phenotyping, is still essential for early interventions. In addition, the incorporation of artificial intelligence (AI), equitable access to advanced genetic studies, and collaborative international networks are playing an increasingly important role in improving diagnostic precision.
A correct diagnosis not only provides crucial information for affected patients and families but also offers valuable counseling, preventive strategies, and access to targeted therapies. In the era of precision medicine, a deeper understanding of genotype–phenotype correlations can enhance individualized therapeutic approaches, improving clinical outcomes for pediatric patients with rare diseases.
This Special Issue, titled “Pediatric Rare Diseases: Genetics and Diagnosis”, aims to offer an updated perspective on the genetic bases and diagnostic strategies for pediatric rare diseases, welcoming contributions that explore the latest advancements, challenges, and opportunities in this rapidly evolving field.
Dr. Antonio F. Martínez‐Monseny
Guest Editor
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Keywords
- rare diseases
- genetics
- pediatrics
- dysmorphology
- molecular diagnosis
- genetic syndromes
- genome
- precision medicine
- phenotype
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