Interesting rare variant study from deCODE reporting a new risk gene for bipolar disorder: HECTD2, whose gene product appears to interact with lithium target GSK3β. This is the second interactor of GSK3β to be linked to bipolar disorder (first one is AKAP11).
Thorgeirsson et al. Nat Gen
https://t.co/j2VVP89jkP
Loss of HECTD2 and AKAP11 function lead to high risk of bipolar disorder. Both genes are tied to GSK3b, a suggested target of lithium.
Study led by Dr. Thorgeirsson - happy to be a part of it
https://t.co/1cPdnvw6qj
Just two weeks back, a rare variant study of Parkinson's disease (PD) in UK Biobank reported the discovery of a new PD risk gene, ITSN1. Now, we have a parallel report from deCODE further validating the strong association of ITSN1 with PD. Amazing
https://t.co/avxHHV6zwX
Excited to share our latest paper, where we describe ITSN1 as a novel risk gene for Parkinson's disease!
We found that rare loss-of-function variants are associated with a 10-fold increased odds of PD. As far as we know, this is the largest effect size reported for sporadic PD to date
https://t.co/QDXWVEHlGg
A small research that marks a small step towards understanding the pathogenesis of Parkinson’s disease.
We show that rare sequence variants, predicted to cause a loss of ITSN1 function, confer a high risk of the disease.
https://t.co/UPt6Xs3hHx
New Decode findings in #NEJM show that TREM2 R47H homozygotes are at higher risk for #Alzheimer's than heterozygotes and are diagnosed earlier than APOE4 homozygotes, underscoring necessity for early intervention in pop. with higher freq. of the variant
https://t.co/Fi0GL9wu8M
Brilliant research led by Dr. Hreinn Stefansson finding that homozygotes of the TREM2 R47H variant are at a much greater risk of Alzheimer’s disease than heterozygotes and are diagnosed earlier than APOE4 homozygotes. Grateful to be a part of it. https://t.co/Hbzts5zVx1
Our comparison of two high-throughput plasma proteomics platforms is out today in @Nature: https://t.co/jULXLtVHVv
By associating protein levels with diseases and genetic variants we demonstrate how differences between platforms can affect the conclusions drawn from experiments.
Gervigreind/gervigeta er svo mikil snilld. Hvet öll til að prófa.
Harry Potter gengið skellir sér í litríkan búning.
Ég notaði Midjourney v5.1
🧵
1. Hermione Granger