Research

(For scientists: click here)

The PLN Foundation connects researchers worldwide, motivates research, stimulates and finances young talent and out-of-the-box ideas. Our Foundation finances pioneering research. Obtaining funds for pioneering research is difficult. Thanks to our funding, the research can start. After positive results money can be obtained from other funds. In this way we follow new developments and insights into science.

An important argument for our projects, is the spin-off which largely consists of a deeper understanding of the workings of the heartmuscle cell and particularly the functioning of the balance of calcium which makes the heartmuscle contract and relax. This may possibly also be applied when finding treatment methods for heartfailure, one of the main causes of death worldwide.

Below you can read more about our scientific research projects.

Luuk Kerckhaert Student Medicine made an overview of all the research that is done: Research PLN p.Arg14del 22-4-2020 public

This overview of the research towards PLN contains the directions of research, the various research projects and the investigators involved. Research towards the PLN mutation can be divided into three main directions:

Etiologic research:

This category contains the research into the cause of the disease (displayed on the left). This category can be further divided in three levels:

  • Research at gene level:

This subcategory contains the research at the level of DNA and genes. Research into the way at which the mutation in the PLN-gene leads to disease is part of this subcategory.

  • Research at protein level:

This subcategory contains the research at the level of the building block of cells in the human body. The function and the behaviour of the PLN-protein in cardiomyocytes is studied in this subcategory.

  • Research at macroscopic level:

This subcategory contains the research towards the effect of the PLN-mutation at organ level. For example, abnormalities in the hearts of PLN-mutation carriers are monitored using electrocardiography and ultrasound.

Therapeutic research:

This category contains the research towards a cure for PLN (displayed on the right). This category can be divided into three different directions of research:

  • Research area DNA:

This subcategory contains the research towards correcting the mutation in the DNA using DNA-editing techniques such as CRISPR-cas and Prime Editing.

  • Research area RNA:

This subcategory contains the research that is conducted towards the possibilities to block the erroneous mRNA (messenger in the cell) and thereby preventing the construction of an erroneous PLN-protein.

  • Research area existing medication:

This subcategory contains the research aimed at finding an existing drug that can be used as treatment for PLN.

Testing platforms:

This category shows the platforms that are developed for the testing of new drugs (upper part of the overview). This category contains, among others, the various animal models carrying the PLN-mutation and the cardiomyocytes, developed from stem cells, with the PLN-mutation.

In addition to the main directions of research, a few other categories are displayed in the overview:

  • CURE PLaN: this is a large international PLN research project containing etiologic research as well as therapeutic research.
  • Education: this category contains the educational initiatives to inform medics about the existence of the PLN mutation and the way it should be dealt with.
  • Family trees: this research is aimed at mapping the family trees of PLN-mutation carriers and using those family trees to find other PLN-mutation carriers.

During the first years, scientific research projects were initiated and financially supported in the Netherlands in order to gain more insight in this disease. The PLN  Foundation came up with the plan to establish a transatlantic collaborative project in order to try and find a treatment for this life-threatening disease.

The project involves the establishment of a unique collaboration between 3 academic medical centers in the Netherlands (Amsterdam UMC, UMC Groningen and UMC Utrecht) and 3 academic medical centers in the United States of America (Mount Sinai Hospital New York, Stanford University, California and the University of Cincinnati College of Medicine). This way, the best of the best in the field of knowledge and experience with the PLN mutation and the most technologically innovative institutes are brought together. 

The most important part of the research project will take place in America and will be supported by sending talented young medical scientists from The Netherlands who also will be financially supported. They will take knowledge back to The Netherlands. The other part will take place in the Netherlands.

The management of the research project is conducted by the Netherlands Heart Institute, a unique collaborative platform of the Cardiology departments of all academic medical centers in The Netherlands. Within this institute, Prof. Dr. Doevendans is responsible for the overall supervision of this project.

The CURE-PLaN project has led to some duplication with this existing project. The Netherlands Heart Institute has been working with us to remove these duplications from the project and to coordinate the two initiatives. Our goal is to support efficient initiatives that strengthen and accelerate the overall project.

Mid 2018, Fondation Leducq awarded USD 6 million for a PLN-focused international research plan, the CURE-PLaN. This project officially started on January 1st, 2019. The team is a transatlantic team brought together by our Foundation, consisting of researchers from UMC Groningen, Amsterdam UMC, UMC Utrecht, New York Mount Sinai Hospital, University of Cincinnati and Stanford University (Mercola Lab). This team was further strengthened with researchers from Greece, United Kingdom and Germany. The researchers meet twice a year to discuss research and share progress.

Prof. dr. E. (Litsa) Kranias is the US Coordinator of the project and 
Prof. dr. P.A.F.M. (Pieter) Doevendans is the EU Coordinator of the project. 

The medical world is evolving rapidly, we want to remain flexible with the research project and also take advantage of new developments. That is why our Foundation organises a “Crazy Ideas” session twice a year, national and international. During this session we ask medical scientists to come up with alternative ideas to make the disease caused by the PLN mutation treatable. For each session, we make a budget available to follow up on the best idea. At the end of a “Crazy Ideas” session, it is immediately announced which researcher is granted the budget.

Here you can read more about the Crazy Ideas research

This overview is far from complete, but gives a good impression of what is happening and where our PLN Foundation is involved. In order to achieve a treatment method for PLN, a lot of work still has to be done and a lot of money is needed. Do you support us?

You are here: plnheart.org Research