This review integrates molecular, clinical, and translational data to provide an updated understanding of GJB2-related deafness and its emerging treatment landscape. Truncating mutations in GJB2 typically cause severe-profound hearing loss (HL) phenotypes, whereas non-truncating alleles are often associated with milder or progressive phenotypes. Geographic variation in variant prevalence contributes to regional differences in disease burden. Beyond the coding region, deletions and cis-regulatory mutations within the DFNB1 locus, including GJB6 and CRYL1, can influence HL severity when compounded with other pathogenic GJB2 variants. DFNB1 hearing loss generally presents as symmetric, bilateral, and flat to gently sloping across frequencies, with preserved cochlear neurons that support excellent cochlear implant (CI) outcomes. Early implantation CI in GJB2-positive children yields superior speech and language development compared with non-GJB2 etiologies. Emerging therapies include dual-AAV (AAV1 + AAV-ie/ScPro) delivery, achieving cell-specific Cx26 restoration, adenine base-editing for dominant-negative variants, and allele-specific suppression using RNA interference or antisense oligonucleotides. Concurrent progress in human iPSC-derived cochlear organoids provides a physiologic model to advance toward clinical trials. By integrating genotype-phenotype correlations, natural history insights, and advances in molecular therapeutics, this review presents a comprehensive update on GJB2-related HL and highlights how gene-based strategies are poised to change the treatment of this condition.
Introductory algebra-based physics courses can present unique motivational challenges for pre-health students, who often perceive physics as irrelevant or intimidating. According to Expectancy-Value Theory, students' performance and persistence are shaped not only by their expectations for success, but also by the perceived value and cost of engagement. This study quantitatively examines the role of perceived cost-such as effort, emotional toll, and opportunity cost-among students enrolled in an active learning, algebra-based physics course designed for life science majors. We analyze expectancy value cost items from survey data of introductory physics students at a Large Hispanic Serving Institution. Our findings reveal that higher perceived costs are negatively correlated with physics identity and intentions to continue in the course sequence, particularly among students who have a low physics identity. Regression analysis of perceived cost before the course results in only emotional cost having a negative effect on students' physics identity. This negative correlation persisted in post course experience, and the added cost of outside effort was statistically significant in negatively affecting physics identity. These findings suggest the persisting emotional anxiety towards physics impedes students from believing they can do well in physics even before they enter the course.