Recent Publications by CFE Educators

Medical education is undergoing curricular reform driven by internal needs and external pressures. Concurrently, medical students are changing. More diverse student bodies, particularly those from underrepresented minorities, bring different skill sets, needs and priorities to their medical school education. Here we present their voices. In order to explore the stories, needs and motivations of future physicians, we conducted a small-scale study of students from diverse backgrounds in US medical schools. Our interviews revealed two core themes about medical school: (1) that medical school is an extreme physical and emotional challenge for all students, and (2) that medical school education consists of multiple conflicting goals. Combining the two themes provides a descriptive topology of student's motivations and strategies for getting through medical school. Using this framework, we deconstruct the experience of medical school to reveal the gaps and misalignments between the traditional system of medical education and what medical students want, expect and need to be successful. We discuss the implications of our research and this framework for curricula and the learning environment with a particular focus on (1) cooperative learning and social interdependence theory and (2) an expanded understanding of diversity and the needs of under-represented students.

PURPOSE

Acute anterior uveitis (AAU) is a common intraocular inflammatory disease. AAU occurs in 30% to 50% of patients with ankylosing spondylitis (AS), and both conditions are strongly associated with human leukocyte antigen (HLA)-B27, implying a shared etiology. This study aims to apply genomewide association study (GWAS) to characterize the genetic associations of AAU and their relationship to the genetics of AS.

METHODS

We undertook the GWAS analyses in 2752 patients with AS with AAU (cases) and 3836 patients with AS without AAU (controls). There were 7,436,415 single-nucleotide polymorphisms (SNPs) available after SNP microarray genotyping, imputation, and quality-control filtering.

RESULTS

We identified one locus associated with AAU at genomewide significance: rs9378248 (P = 2.69 × 10-8, odds ratio [OR] = 0.78), lying close to HLA-B. Suggestive association was observed at 11 additional loci, including previously reported AS loci ERAP1 (rs27529, P = 2.19 × 10-7, OR = 1.22) and NOS2 (rs2274894, P = 8.22 × 10-7, OR = 0.83). Multiple novel suggestive associations were also identified, including MERTK (rs10171979, P = 2.56 × 10-6, OR = 1.20), KIFAP3 (rs508063, P = 5.64 × 10-7, OR = 1.20), CLCN7 (rs67412457, P = 1.33 × 10-6, OR = 1.25), ACAA2 (rs9947182, P = 9.70 × 10-7, OR = 1.37), and 5 intergenic loci. The SNP-based heritability is approximately 0.5 for AS alone, and is much higher (approximately 0.7) for AS with AAU. Consistent with the high heritability, a genomewide polygenic risk score shows strong power in identifying individuals at high risk of either AS with AAU or AS alone.

CONCLUSIONS

We report here the first GWAS for AAU and identify new susceptibility loci. Our findings confirm the strong overlap in etiopathogenesis of AAU with AS, and also provide new insights into the genetic basis of AAU.