Advances in Craniofacial Genetics

Dear Colleagues,

Craniofacial genetics has a long past but a short history. At least since Hippocrates, the perceived cranial and facial resemblance between children and their parents was noted as an inherited characteristic. In recent decades, accumulating evidence from biomedical research in humans and in animal models has suggested that craniofacial morphogenesis is multifactorial, both influenced by environmental factors and orchestrated by a multitude of genes. Subtle variations in gene expression and protein function result in a spectrum of combinatorial possibilities and an extensive diversity of craniofacial phenotypes. Furthermore, patients may have isolated craniofacial anomalies or present with a constellation of features suggestive of specific genetic syndromes that require the collaboration of experts in various disciplines. Recent advances in clinical and molecular genetic studies have produced a plethora of DNA sequence variants, and current research deciphering the epigenetic regulation mechanisms and gene–environmental interactions, shedding new light on the developmental processes of normal and abnormal craniofacial morphogenesis.

The aim of this Special Issue of Genes on the topic of the “Advances in Craniofacial Genetics” lies at the crossroads of genetics, craniofacial surgery, neurosurgery, oral maxillofacial surgery, neurology, ophthalmology, otorhinolaryngology, oral medicine, dentistry, developmental pediatrics, dermatology, pathology, and molecular biology, showcasing contributions regarding novel clinical, genetic, and epigenetic research in the exciting fields of craniofacial genetics, orofacial genetics, developmental genetics, and neurogenetics, as well as head and neck cancer genetics. Priority will be mainly given to innovative research works dealing with the following: (i) the genetics (not the clinical aspects) of craniofacial disorders; (ii) evidence of genotype–phenotype causation, (iii) state-of-the art molecular, genetics, and -omics strategies for the identification and exploration of functional aspects of craniofacial causative gene(s); and (iv) the locus and allele heterogeneity of craniofacial disorders.

Dr. Christos Yapijakis
Guest Editor

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