Three New Publications from CureHeart

August was a bumper month of outputs for CureHeart researchers with three publications across the breadth of our project aims.

Firstly, a review article by CureHeart PI Eric Olson and Ning Liu presented recent advances in gene editing technologies in the cardiovascular system in the Annual Review of Genetics. Many of the techniques described are being used by the CureHeart team so the paper is an excellent overview of what is currently achievable by us and the wider scientific community.  

Meanwhile, our colleagues in Boston, led by Neal Lakdawala, have published their analysis of circulating protein biomarkers from patients with cardiomyopathy causing variants in the Lamin A/C gene, in Circulation: Genomic and Precision Medicine. After titin, Lamin A/C is the most commonly affected gene in dilated cardiomyopathy, and insights from this study are allowing us to uncover a  clearer picture of what is going wrong with patients’ hearts and how that presents in the blood. Pathway analysis helps to identify predictors of disease severity and uncover the most significant targets for interventions to treat patients with personalised therapies.

Finally, a large consortium of UK based clinical researchers including 9 from CureHeart and led by our very own Paz Tayal and James Ware have identified a significant number of differences in clinical presentation of cardiomyopathy dependent on gender. The brief report in JACC shows that whilst in general more men are affected by dilated cardiomyopathy from both all causes and faulty genetics, there are subsets of genes that have greater risk in women (i.e. desmoplakin). Risk analysis studies like this one will help guide cardiologists to design stratified treatments to mitigate risk and symptoms in patients depending on sex. It will also help researchers in their search for modifying influences to genetic disease.