Sarah E. Topol

TL;DR: The results suggest healthy aging is an overlapping but distinct phenotype from exceptional longevity that may be enriched with disease-protective genetic factors, and suggests protection against cognitive decline is a genetic component of healthy aging.

TL;DR: To identify the cause of childhood onset involuntary paroxysmal choreiform and dystonic movements in 2 unrelated sporadic cases and to investigate the functional effect of missense mutations in adenylyl cyclase 5 in sporadic and inherited cases of autosomal dominant familial dyskinesia with facial myokymia (FDFM).

TL;DR: Describing circulating endothelial cells (CECs) using an automated and clinically feasible CEC three-channel fluorescence microscopy assay in 50 consecutive patients with ST-segment elevation MI and 44 consecutive healthy controls suggests that tell-tale CECs may be useful in the clinic as evidence of ongoing plaque rupture and as a warning of possible heart attack in the near future.

TL;DR: The findings highlight the potential for re-analysis to reveal diagnostic variants in cases that remain undiagnosed after initial WES, as well as improvement in variant classification tools, updated genetic databases, and updated clinical phenotypes.