Background: Rapid advances in dental medicine necessitate a shift from traditional educational paradigms to competency-based education (CBE), which emphasizes the acquisition of specific clinical and professional skills. Aim: This study examines the implementation and effectiveness of CBE in Sudanese dental schools by comparing four curriculum models—discipline-based, hybrid, integrated, and community-based. Methods: A convergent parallel mixed-method design was employed to collect quantitative data through structured surveys and qualitative data via semi-structured interviews with students, faculty, and dental practitioners. Descriptive statistical analyses and thematic analyses were used to assess competency achievement across eight domains and to evaluate stakeholder perceptions. Results: Quantitative findings revealed robust competency attainment in the knowledge base domain, while practice management skills were significantly lacking across several models. Notably, the integrated curriculum at Ribat University achieved high scores in both communication and practice management, contrasting with gaps observed in discipline-based and hybrid models. Qualitative insights underscored the need for improved management training and stronger interdisciplinary integration. Conclusions: CBE frameworks in Sudanese dental education effectively foster essential competencies; however, targeted curricular enhancements—particularly in practice management—are required to better prepare graduates for contemporary dental practice.

Background and Objectives: Inherited metabolic disorders (IMDs) are a group of genetic disorders characterized by defects in enzymes or transport proteins involved in metabolic processes. These defects result in an abnormal accumulation of metabolites and thus interfere with the body’s metabolism. A variety of IMDs exist and differential diagnosis is often challenging. Our objective was to gain insight into the genetic basis of IMDs and the correlations between specific genetic mutations and clinical presentations in patients admitted at various hospitals in the Madinah region of the Kingdom of Saudi Arabia. Material and Methods: Whole exome sequencing (WES) has emerged as a powerful tool for diagnosing IMDs and allows for the identification of disease-causing genetic mutations in individuals suspected of IMDs. This ensures accurate diagnosis and appropriate management. WES was performed in four families with multiple individuals showing clinical presentation of IMDs. Validation of the variants identified through WES was conducted using Sanger sequencing. Furthermore, various computational analyses were employed to uncover the disease gene co-expression and metabolic pathways. Results: Exome variant data analysis revealed missense variants in the BTD (c.1270G > C), ASL (c.1300G > T), GBE1 (c.985T > G) and AGL (c.113C > G) genes. Mutations in these genes are known to cause IMDs. Conclusions: Thus, our data showed that exome sequencing, in conjunction with clinical and biochemical characteristics and pathological hallmarks, could deliver an accurate and high-throughput outcome for the diagnosis and sub-typing of IMDs. Overall, our findings emphasize that the integration of WES with clinical and pathological information has the potential to improve the diagnosis and understanding of IMDs and related disorders, ultimately benefiting patients and the medical community.

Background: Hypermanganesemia with dystonia 1 (HMNDYT1) is a rare genetic disorder characterized by elevated blood manganese levels. This condition is associated with polycythemia, motor neurodegeneration with extrapyramidal features, and hepatic dysfunction, which can progress to cirrhosis in some patients. Materials and Methods: In this study, a consanguineous Saudi family with two affected individuals exhibiting symptoms of severe motor impairment, spastic paraparesis, postural instability, and dystonia was studied. Clinical and radiographic evaluations were conducted on the affected individuals. Whole exome sequencing (WES) was performed to diagnose the disease and to determine the causative variant underlying the phenotype. Moreover, Sanger sequencing was used for validation and segregation analysis of the identified variant. Bioinformatics tools were utilized to predict the pathogenicity of candidate variants based on ACMG criteria. Results: Exome sequencing detected a recurrent homozygous missense variant (c.266T>C; p.L89P) in exon 1 of the SLC30A10 gene. Sanger sequencing was employed to validate the segregation of the discovered variant in all available family members. Bioinformatics tools predicted that the variant is potentially pathogenic. Moreover, conservation analysis showed that the variant is highly conserved in vertebrates. Conclusions: This study shows that exome sequencing is instrumental in diagnosing undiagnosed neurodevelopmental disorders. Moreover, this study expands the mutation spectrum of SLC30A10 in distinct populations.

Background: The microcephalin 1 / BRITI1 ( MCPH1 ) gene has been implicated in microcephaly (MCPH), primary ciliary dyskinesia (PCD) syndrome, enlarged cranial volume, and pancreatic and breast cancers. It functions as a tumor suppressor and shows reduced expression in various cancer types. Therefore, the identification of MCPH1 polymorphisms is of paramount importance. Aims and Objectives: Considering the multifaceted role of MCPH1 , this study is aimed at examining the structural and functional impact of nonsynonymous single nucleotide polymorphisms (nsSNPs) on MCPH1 using in silico tools to understand its potential role in pathogenesis. Methodology: In the present investigation, a wide array of in silico tools was deployed to explicate putative pathogenic missense/nsSNPs that might impact the structural integrity and molecular functions of MCPH1 . The mining of damaging nsSNPs was carried out based on the evolutionary conservation of sequence information, prediction of protein stability, interaction analysis, and their potential impact was assessed using structure prediction and 3D modeling, and interaction with other genes/pathways. Results: In the initial screening, SIFT, PolyPhen‐2, SNAP2, Align GVGD, PhD‐SNP, PANTHER, and SNPs&GO revealed 23 potential deleterious SNPs in MCPH1 . Population frequency analysis using gnomAD revealed that the prioritized variants were extremely rare in the global population. I‐mutant and ConSurf further revealed that 16 nsSNPs exhibited a decrease in protein stability due to changes in size and charge. I‐TASSER was used to predict wild‐type and mutant protein 3D structures. The potential effect of variation on 3D protein structure was assessed using the Chimera tool, which presented the probable structural loss in eight variants, including p.A11D, p.H49D, p.T59I, p.W60S, p.W60C, p.L74P, p.C79G, and p.L781P. Most of these potential variants resided in the N ‐terminal BRCT domain, which is implicated in neurodevelopment, and thus may lead to the pathogenesis of primary microcephaly. Furthermore, single‐cell transcriptomic mapping of MCPH1 against dataset of 33,206 cells from malformations of cortical development detected MCPH1 expression across multiple cellular populations. This broad distribution suggested potential MCPH1 function across several neural and glial cell populations. Conclusion: The potentially deleterious nsSNPs predicted in this study can be of great significance in understanding MCPH1- related diseases and may serve as potential targets for future functional validation and therapeutic interventions.