Innovative technique for preventing cardiomyopathy
€ 69.166 raised
Paul Wijnker, scientist at VUmc in Amsterdam, the Netherlands
My research focuses on heart muscle disease. This is a serious condition that can lead to cardiac arrest, even at a young age. With a new technique I will investigate whether I can reduce the impact of the genetic errors that are at the root of this disease.
If this works, we can prevent people with this genetic disorder from becoming ill. We can possibly even restore the heart muscle if it is already sick. This way we can prevent people from getting serious heart problems way too young, or even dying.
Heart muscle disease is the leading cause of cardiac arrest at a young age. If a young athlete suddenly dies, it is usually caused by this condition. Even children can develop heart muscle disease. It touches me, when a young child already has serious heart problems.
The disease called 'hypertrophic cardiomyopathy' or HCM can also lead to other serious complaints, such as extreme fatigue, dyspnea or syncope.
Despite years of research into heart muscle disease, no good treatment for heart muscle disease has yet been found. This is partly because it is such a complex disease: we already know more than 1400 mistakes in the genes that can lead to heart muscle disease.
The genetic errors do not allow the heart muscle cells to contract and relax properly. But the effects of these errors differ a great deal. With some errors, you can grow old without ever getting any problems. Others are much more serious. How sick you become also depends on other factors, such as extreme exertion.
More and more people know from research that they have a genetic predisposition to develop heart muscle disease. But the problem is: we do not know how to treat these people the best way. We cannot prevent or cure the disease yet.
It would be best if we could neutralize these gene errors, so that the heart muscle cells could continue to work properly.
Advances in technology have allowed new ways to test possible treatments. Together with colleagues I have set up a unique technique with which we can grow pieces of 3-dimensional human heart muscle in the lab. We can induce very specific gene errors (mutations) in those cells and investigate the effect of promising new drugs.
With this I want to test a medicine, which is already used in treatment of diabetes; we think this medicine can counteract the damage caused by the mutations.
That would be great. But without your help, the research cannot be performed. The Dutch Heart Foundation believes in my research and doubles every contribution. We need € 50,000. Support my research please! Every donation brings the solution closer.
Thank you very much!