Genetics plays a crucial role in the manifestation and progression of over 6,800 rare diseases, including but not limited to, genetic disorders, rare cancers, and infectious diseases. Factors such as aging, diet, and medications also heavily influence the development of these conditions, adding complexity to their study. The scarcity of cases compounds the challenge, as does the variability in their presentation. Recent years have seen a significant improvement in our understanding of these diseases through human genetic studies identifying associated mutations, and through advanced computational methods, providing deeper insights into their etiology.

This Research Topic aims to foster comprehensive advancements in the knowledge of oral and dental rare diseases. The variability in symptoms and the obscure mechanisms underlying these diseases make developing treatment modalities difficult, pointing to a substantial gap in the current scientific landscape suitable for exploration.

To gather further insights into these complex conditions, we welcome articles addressing, but not limited to, the following themes:

• Human genetics studies including GWAS, WGS, WES, and RNA-seq, alongside epidemiological data;
• Computational methodologies involving deep learning, tool development, and meta-analyses;
• Use of animal models to study oral and dental anomalies;
• Multi-omics approaches in animal models and cultured cells;
• Novel findings in the diagnosis and treatment of rare oral and dental diseases.

We encourage contributions in the form of reviews, mini-reviews, original research papers, case reports, and systematic reviews, which will enrich our understanding of the complexities associated with rare diseases affecting oral and dental health. While abstract submissions are not compulsory, we advise potential contributors to provide a manuscript summary to outline the scope and content of their intended submissions.

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Genetics of the Oral and Dental Rare Diseases