Introduction

The AAMC prioritizes promoting a diverse and culturally competent workforce which is thought to have a positive impact on the health of people living in the US. There is a lack of diversity in the current landscape of academic medicine and strategies are needed to effect change. This module introduced undergraduate and graduate medical trainees to leadership skills and opportunities in curriculum innovation and reform by learning about and interacting with the office of medical education (OME) at their institutions.

Methods

We implemented a workshop using small-group case discussions and didactics to help medical students and residents learn how to: (1) describe the structure and functions of an OME, (2) describe leadership competencies associated with various roles within the OME, and (3) identify opportunities for trainees to engage with the OME on curricular innovation and reform, especially advancing diversity and inclusion.

Results

Across three sites, 45 learners completed partial or full workshop evaluations. Of learners, 22 (49%) were not knowledgeable and 13 (29%) were somewhat knowledgeable in identifying leadership opportunities for trainees to become engaged through the OME. There was a statistically significant increase in confidence after the workshop in "discussing an interdisciplinary approach to the creation of a medical education innovation," and, "assessing the need for curricula change." Over 90% of attendees agreed learning objectives were met.

Discussion

This workshop succeeded in promoting awareness of the structure and function of OMEs and confidence in seeking opportunities to become engaged in medical education, especially in advancing diversity and inclusion.

Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular diagnosis identified apparent causal mutations in ∼ 45% (17/37) of families. Three candidate disease genes are proposed, supported by a combination of genetic and in vivo studies. Aggregate analysis of mutation data revealed a significantly increased number of rare variants across 58 neuropathy-associated genes in subjects versus controls, confirmed in a second ethnically discrete neuropathy cohort, suggesting that mutation burden potentially contributes to phenotypic variability. Neuropathy genes shown to have highly penetrant Mendelizing variants (HPMVs) and implicated by burden in families were shown to interact genetically in a zebrafish assay exacerbating the phenotype established by the suppression of single genes. Our findings suggest that the combinatorial effect of rare variants contributes to disease burden and variable expressivity.