Histone H3.3 beyond cancer: Germline mutations in cause a previously unidentified neurodegenerative disorder in 46 patients.

Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported.

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.

Purpose: We investigated the value of transcriptome sequencing (RNAseq) in ascertaining the consequence of DNA variants on RNA transcripts to improve the diagnostic rate from exome or genome sequencing for undiagnosed Mendelian diseases spanning a wide spectrum of clinical indications.

Methods: From 234 subjects referred to the Undiagnosed Diseases Network, University of California-Los Angeles clinical site between July 2014 and August 2018, 113 were enrolled for high likelihood of having rare undiagnosed, suspected genetic conditions despite thorough prior clinical evaluation. Exome or genome sequencing and RNAseq were performed, and RNAseq data was integrated with genome sequencing data for DNA variant interpretation genome-wide.

Eradicating medical student mistreatment: a longitudinal study of one institution's efforts.

Purpose: Since 1995, the David Geffen School of Medicine at UCLA (DGSOM) has created policies to prevent medical student mistreatment, instituted safe mechanisms for reporting mistreatment, provided resources for discussion and resolution, and educated faculty and residents. In this study, the authors examined the incidence, severity, and sources of perceived mistreatment over the 13-year period during which these measures were implemented.

Method: From 1996 to 2008, medical students at DGSOM completed an anonymous survey after their third-year clerkships and reported how often they experienced physical, verbal, sexual harassment, ethnic, and power mistreatment, and who committed it.

Numerical Versus Pass/Fail Scoring on the USMLE: What Do Medical Students and Residents Want and Why?

Background: Although the primary purpose of the US Medical Licensing Examination (USMLE) is assessment for licensure, USMLE scores often are used for other purposes, more prominently resident selection. The Committee to Evaluate the USMLE Program currently is considering a number of substantial changes, including conversion to pass/fail scoring.

Methods: A survey was administered to third-year (MS3) and fourth-year (MS4) medical students and residents at a single institution to evaluate opinions regarding pass/fail scoring on the USMLE.