ARTICLE | Discovery & Translation

Targets for severe COVID-19; plus Alzheimer’s resistance case study and more

BioCentury’s roundup of translational news

May 19, 2023 11:57 PM UTC

A team led by J. Kenneth Baillie at University of Edinburgh revealed in Nature 49 genetic variants underlying severe COVID-19 from a genome-wide association study. The scientists combined the GWAS results with gene expression data using a monocyte transcriptome-wide association study (TWAS) model to identify six potentially druggable targets: JAK1, PDE4A, SLC2A5, AK5, TMPRSS2 and RAB2A.

A collaboration between Harvard Medical SchoolUniversity of Antioquia and University Medical Center Hamburg-Eppendorf identified a gain-of-function mutation in the RELN gene that may have conferred resilience in a male carrying a gene for autosomal-dominant Alzheimer’s disease. The male remained asymptomatic until age 67 despite having a PSEN1-E280A mutation that typically causes early-onset Alzheimer's disease with cognitive symptoms starting in the mid-to-late 40’s...