Characterization of greater middle eastern genetic variation for enhanced disease gene discovery

The Greater Middle East (GME) has been a central hub of human migration and population admixture. The tradition of consanguinity, variably practiced in the Persian Gulf region, North Africa, and Central Asia1-3, has resulted in an elevated burden of recessive disease4. Here we generated a whole-exome GME variome from 1,111 unrelated subjects. We detected substantial diversity and admixture in continental and subregional populations, corresponding to several ancient founder populations with little evidence of bottlenecks. Measured consanguinity rates were an order of magnitude above those in other sampled populations, and the GME population exhibited an increased burden of runs of homozygosity (ROHs) but showed no evidence for reduced burden of deleterious variation due to classically theorized ‘genetic purging’. Applying this database to unsolved recessive conditions in the GME population reduced the number of potential disease-causing variants by four- to sevenfold. These results show variegated genetic architecture in GME populations and support future human genetic discoveries in Mendelian and population genetics

Social media interruption affects the acquisition of visually, not aurally, acquired information during a pathophysiology lecture

Poor academic performance from extensive social media usage appears to be due to students' inability to multitask between distractions and academic work. However, the degree to which visually distracted students can acquire lecture information presented aurally is unknown. This study examined the ability of students visually distracted by social media to acquire information presented during a voice-over PowerPoint lecture, and to compare performance on examination questions derived from information presented aurally vs. that presented visually. Students ( n = 20) listened to a 42-min cardiovascular pathophysiology lecture containing embedded cartoons while taking notes. The experimental group ( n = 10) was visually, but not aurally, distracted by social media during times when cartoon information was presented, ~40% of total lecture time. Overall performance among distracted students on a follow-up, open-note quiz was 30% poorer than that for controls ( P < 0.001). When the modality of presentation (visual vs. aural) was compared, performance decreased on examination questions from information presented visually. However, performance on questions from information presented aurally was similar to that of controls. Our findings suggest the ability to acquire information during lecture may vary, depending on the degree of competition between the modalities of the distraction and the lecture presentation. Within the context of current literature, our findings also suggest that timing of the distraction relative to delivery of material examined affects performance more than total distraction time. Therefore, when delivering lectures, instructors should incorporate organizational cues and active learning strategies that assist students in maintaining focus and acquiring relevant information