Molecular Research Advances in Common and Rare Pediatric Diseases

Dear Colleagues,

The diagnosis and management of common pediatric diseases and rare diseases can be challenging for clinicians due to the complex molecular mechanisms underlying the pathophysiological processes, which may differ in children compared to adults. Pediatric pathology is vast and encompasses numerous conditions that often require a multidisciplinary medical team.

This Special Issue, dedicated to recent advances in the molecular mechanisms of common and rare pediatric diseases, aims to include original articles, reviews, and case reports on the diagnosis and management of both common and rare genetic diseases manifesting in childhood, as well as on modern molecular diagnostic methods that provide the basis for innovative, targeted therapies. Pediatric pathology remains a fascinating field, both due to the diversity of clinical manifestations and the challenges of diagnosis, treatment, and multidisciplinary management.

Research into the molecular mechanisms underlying pediatric pathology (including rare diseases) is based on the analysis of complex chromosomal rearrangements (classical karyotype, array CGH, microarray, FISH, qRT-PCR), as well as DNA-based tests to identify monogenic mutations using Next Generation Sequencing (NGS)—ranging from single-gene testing to gene panels and extended analyses such as Whole Exome Sequencing (WES) or even Whole Genome Sequencing (WGS).

The identification of new molecules involved in various signaling pathways could provide therapeutic targets for modern drugs that are far more efficient than current treatments.

Through this Special Issue, we invite scientists from pediatric and genetic specialties to present their studies and perspectives on pediatric patients with these conditions. Purely clinical studies are not suitable for this Special Issue, but studies that correlate clinical manifestations with molecular investigations are welcome.

Dr. Lǎcrǎmioara Ionela Butnariu
Guest Editor

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