BIH Excellence Award for Sex and Gender Aspects in Health Research 2021

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Award Project: Bridging the sex-gap in coronary artery disease 
Project Partner: Dr. Teresa Gerhardt (BIH/ Charité) Dr. Elisabeth Strässler (Charité)  

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The research project focuses on coronary heart disease. Although overall the death rate from heart attacks and strokes has dropped by 60 percent in the last 20 years, we have seen that young women are the least likely to benefit from this improvement. Prof. Erdmann an her collaborators have found a gene called MYOZ2 that is linked to cardiovascular risk in women, but not in men. The researchers want to insert the pathologically mutated gene into human induced pluripotent stem cells (hiPSCs) – specifically into female and male hiPSCs. They then plan to let the genetically modified stem cells mature into vascular cells in the laboratory to study what effects the altered gene produces. 

Jeanette Erdmann studied biology in Cologne and did her doctoral work at the Institute of Human Genetics in Bonn. After receiving her doctorate, she served as a research group leader in Berlin and Regensburg. She qualified as a professor at Universität Regensburg. Since 2003 she has been working at the Universität zu Lübeck. In 2012 she was appointed to a tenured DZHK Professorship by the German Centre for Cardiovascular Research Diseases. Since 2013 she has successfully led the newly founded Institute for Cardiogenetics, which aims to better understand the genetic factors that lead to cardiovascular diseases, e.g., atherosclerosis and heart attacks. She is a member of the German National Academy of Sciences Leopoldina.  

Award Project: Sex-dependent impact of constitutive myosin light chain phosphorylation on cardiac function 
Project Partner: Prof. Dr. Sophie van Linthout (BIH) and Prof. Dr. Carsten Tschöpe (BIH)  

Cardiac insufficiency, often referred to simply as heart failure, is characterized by the inability of the heart muscle to function properly. The muscle cells have structural defects and are interspersed with connective tissue. Cardiologists distinguish here between the condition where the heart chambers become massively enlarged and the condition where there is an uncontrolled increase in wall thickness of the left atrium and a reduced volume of the left ventricle. In women the latter form of heart failure is much more common, but research does not know why. So far there are no specific treatment options for women or men. To remedy this, Ralph Knöll, Sophie Van Linthout, and Carsten Tschöpe have teamed up to study gender-specific differences in mice in which a genetic modification causes a particular muscle protein (myosin) to be constantly active, contributing to the loss of function in heart muscle cells and to the development of fibrosis and severe enlargement of the left atrium. 

Ralph Knöll is Chief Scientist at the British-Swedish pharmaceutical company AstraZeneca and a Principal Investigator at the Karolinska Institutet in Stockholm. He was recruited from Imperial College London where he was Professor and Chair of Myocardial Genetics from 2009 to 2014. He was formerly head of a research group studying cardiovascular molecular genetics at the University of Göttingen from 2004 to 2009. Knöll has a strong interest in genetics, physiology and pharmacology of the cardiovascular system. His translational research aims to unravel the epigenetic mechanisms underlying the biology of human cardiac disease and to use these findings as a basis for developing new therapies for heart failure.