Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.

Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing. Some of this heritability may be explained by rare variants (minor allele frequency [MAF] ≤ 0.01.). We performed multiple gene-based association tests of mean Spherical Equivalent with rare variants in exome array data from the Consortium for Refractive Error and Myopia (CREAM). The dataset consisted of over 27,000 total subjects from five cohorts of Indo-European and Eastern Asian ethnicity. We identified 129 unique genes associated with refractive error, many of which were replicated in multiple cohorts. Our best novel candidates included the retina expressed PDCD6IP, the circadian rhythm gene PER3, and P4HTM, which affects eye morphology. Future work will include functional studies and validation. Identification of genes contributing to refractive error and future understanding of their function may lead to better treatment and prevention of refractive errors, which themselves are important risk factors for various blinding conditions.

Will you choose neurosurgery as your career? An Indian female medical student perspective.

OBJECTIVE: We aim at recognising the reasons that discourage female medical students to consider neurosurgery as a career, from an Indian perspective. METHODOLOGY: An online survey was disseminated in various medical colleges of India. The study included female medical students (both cis and trans). The questionnaire consisted of objective questions on mentorship, opportunities and exposure. Their concerns on long working hours and the reasons for the same were recorded. RESULTS: 348 responses were included of which 79.9 % of students felt they didn't receive proper exposure to neurosurgery in their medical school. 87.4 % of the respondents faced a lack of opportunity and mentorship for research. 65.2 % of students felt that they would be more interested in neurosurgery if a female professor were to mentor them. Long working hours and Reduced Family and Personal time were identified as statistically significant factors (p < 0.001) that play a role in demotivating female medical students towards neurosurgery. Altered quality of life was the most frequent (79.49 %) and significant reason (p = 0.004) as to why long working hours were a concern for them. 65.07 % of participants did not consider physical strength to be a hurdle (p = 0.008). Approximately 37.6 % participants felt that maternity and neurosurgery could be incompatible (p = 0.005). CONCLUSIONS: The study brings out the notions that female medical students have regarding the long working hours and decreased family and personal time, complicated by pregnancy and maternal leave in the life of female neurosurgeon.