The Steinmetz Cardiomyopathy Fund was established in memory of Dr. Michael Steinmetz, a pioneer in biotechnology and healthcare who died of an aggressive, inherited form of dilated cardiomyopathy (DCM). Familial DCM is a genetic disease that occurs when the heart muscle dilates, cannot contract normally, and therefore cannot pump blood efficiently. It is one of the main causes of heart failure and the leading reason for heart transplantations. Our mission is to find a cure for this deadly disease and help all affected families, as currently there are no targeted treatments. Currently, diagnosis and management of DCM rely heavily on complex medical procedures including echocardiography, heart biopsies and genetic testing.
Donations
Your donation to the Steinmetz Cardiomyopathy Fund will be used to dissect the molecular mechanisms underlying DCM and accelerate the development of new personalised approaches to detect, monitor and ultimately prevent the disease in its earliest stage. Major challenges lie in establishing less cumbersome systems to monitor disease progression and determine early hallmarks of disease. The funds will be used for collaborative research led by Dr. Lars Steinmetz, who is a Senior Scientist in the Genome Biology Unit at EMBL, Professor of Genetics at Stanford University, and Co-Director of the Stanford Genome Technology Center.
All donations are tax-deductible in the USA or in Germany, respectively, and can be made via:
The Stanford University donations page
- Select Stanford Medicine, then Stanford Medicine (Other) from the drop-down options
- Type in “GHEYN- Steinmetz Cardiomyopathy Fund- IMO Michael Steinmetz”
Check to Stanford University
Please be sure to write “GHEYN- Steinmetz Cardiomyopathy Fund- IMO Michael Steinmetz” in the memo line for your funds to be deposited into the correct account:
Stanford University
Development Services
P.O. Box 20466
Stanford, CA 94309-0466
The EMBL donations page
- Select Steinmetz Cardiomyopathy fund
- Send a confirmation email to lars.steinmetz@embl.de to enable fund tracking.
Current Research
Much progress has been made in understanding the genetics of cardiovascular diseases like DCM (Figure 1), but developing targeted therapies will require a better understanding of how genetics affects heart function. There is clear evidence that a gene called RBM20 plays a key role in familial DCM. RBM20 encodes a protein that helps process (“splice”) RNA molecules in the heart, and mutations in this gene are responsible for this disease in an estimated 3-5% of all cases. We are now using diverse strategies to understand the exact mechanisms by which RBM20 causes DCM and design new therapeutic approaches.
Figure 1: The genetics of cardiovascular diseases are complex: mutations in many genes are involved in one or more disease types, and how these mutations or combinations thereof lead to disease remains to be understood. Hershberger, R. E. et al. Nat. Rev. Cardiol. 10, 531–547 (2013)
To understand the clinical impact of RBM20 mutations, we have generated induced pluripotent stem cells (iPSCs) from adult patients and healthy controls. These cells can be differentiated into various human tissues, including heart cells (cardiomyocytes). Using the newest sequencing technologies and cutting-edge experimental systems we are studying how mutations in RBM20 affect the characteristics and functionality of such cardiomyocytes. In addition, we are using genome editing approaches to introduce disease-causing mutations into animal models so that we can study their consequences in the organ and test putative therapeutic approaches. Using the patient heart cells we have engineered in the lab (Figure 2), we have set up a platform to test drugs that may counteract the harmful effects of RBM20 mutations.
Figure 2: Dr. Steinmetz’s lab has engineered cardiomyocytes (heart muscle cells) from DCM patients that can be used to study the disease in a dish. Like the human heart, these cells beat approximately 60 times per minute.