Dr Fabrice Jaffre, Dept of Surgery Weill Cornell Medical School, New York, has already been able to use stem cells and convert them into heart muscle cells with the RAF1 gene mutation and found that activation of one part of the MEK pathway causes an abnormal structure in the cardiac cell and activation of the ERK pathway causes cell proliferation. This finding gives an insight into which drugs (MEK or ERK inhibitors) might be used to treat cardiomyopathy in Noonan Syndrome.
The present application is to grow these cardiomyocytes into rudimentary hearts called cardioids and then plate them out into multiple cell culture wells and test each well with a potential chemical treatment to see if the chemical inhibits cell proliferation or cell disarray. This will be done with 6500 chemicals in 6500 culture wells. In addition, they can use the Rockefeller University panel which take the number of compounds to 165,000. With this size of panel there is a good chance that there will be some compound which effects the MEK or ERK pathway and reduces cell proliferation and myocardial disarray and would be a potential treatment not just in the RAF1 cardiomyopathy but also possibly if there is a common pathway in other cardiomyopathies.
This is the first stage of finding a new treatment for the cardiomyopathy in Noonan Syndrome and is at the cutting edge of science as the method of developing cardioids was only published a few months ago.