A mutation in the lamin A/C gene can lead to serious heart muscle disease. That is why a lot of research is needed to find a new solution.

A very involved family, under the leadership of Rogier Veltrop, will help us in an international study set up in Maastricht. This is extraordinary because there are very few family studies in which three generations are represented, with both males and females, mutation carriers and non-mutation carriers, symptomatic and asymptomatic. It will be investigated how the DNA is read after it has been folded in the cell nucleus. With an LMNA problem, we see that the uncoiling of the DNA – in order to read DNA properly in order to make proteins – is not done correctly and efficiently. This fits well with the current research on signaling pathways at the research school for cardiovascular diseases CARIM, Maastricht University.

We also want to use this family study as a precursor in the development of genetic corrections and therapies. This family, with and without the LMNA mutation, but also symptomatic and asymptomatic, has the same genetic pedigree and therefore provides more reliable information.

These projects are ready to start! Reprogramming and characterizing these cells costs about € 40,000 and then the actual research has to start afterwards. To get this project off the ground quickly, we will find new molecular mechanisms and ensure a good start of new much-needed gene therapy for LMNA patients. At least € 100,000 is needed to complete this project.

Patient organization LMNAcardiac is helping, will you all help to give substance to this project? Will you also help this ground breaking research?

LMNA - campaign