Fritz Roth Thanks Supporters of Science Magazine Study Linking Genes to High Cholesterol and Heart Attack Risk
Fritz Roth, Professor and Chair, Department of Computational and Systems Biology, University Pittsburgh School of Medicine, shared on LinkedIn:
”Seldom in a scientific career will it come together like this: A big important problem (deciphering the genetics of LDL aka ‘bad cholesterol’) with fundamental and clinical dimensions, via enabling tech that arrives just in time, a little luck and of course funding across the 9 year(!) arc of the project as it moved from Lunenfeld-Tanenbaum Research Institute, Sinai Health and Donnelly Centre for Cellular and Biomolecular Research, University of Toronto to the University of Pittsburgh School of Medicine and now to Science Magazine.
But being part of this spectacular team has been the greatest joy:
-Big shoutout to co-first author Atina Cote who figured out two scalable functional assays for LDL receptor variants and led a crack team (hat tip to Ash Rayhan especially) to make the highest quality dataset.
-Also of course to Daniel Tabet of who led the analysis (hat tips to Jochen Weile and Megan Lancaster) and writing.
-But the list goes on… Doug Fowler and Kenneth Matreyek set us up with key reagents; Calum MacRae invited us to join One Brave Idea and aim this technology at preventing coronary artery disease; Spectacular experts ( Calum, Robert Hegele, Dan Roden, Victoria Parikh, Andrew Glazer, Brett Kroncke, Joshua Knowles, Euan Ashley ) patiently guided us on questions of cardiovascular biology and checked repeated drafts);
– Liz Cirulli at Helix helped us investigate human cohort data;
– The ClinGen Resource experts on familial hypercholesterolemia including Mafalda Bourbon and Simon Pfisterer who helped validate the results and are now working with us to put this resource into clinical practice.
This work was generously supported financially by One Brave Idea, the National Heart, Lung, and Blood Institute, the Canadian Institutes of Health Research | Instituts de recherche en santé du Canada , Canada Foundation for Innovation/Fondation canadienne pour l’innovation and the National Human Genome Research Institute (NHGRI), and by the community spirit of the Atlas of Variant Effects Alliance.
Thanks all!”
Read the full article here.
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