Scientific materials that we currently use:
iPSC cell line with BAG3 P209L mutation (heterozygous)
isogenic iPSC cell line without mutation, i.e. a healthy cell line
isogenic iPSC cell line with BAG3 P209L mutation on both alleles (homozygous)
fibroblasts with the BAG3 P209L mutation
breeding mice expressing the human mutant hBAG3 P209L protein (the mice also have their own BAG3 protein)
In our research, we use a number of scientific studies listed on the BAG3 P209L mutation page.
Current activities
[2023, July]
Signing an annex to the contract with the University of Gdańsk, allowing to hire an additional person to work
Planning further experiments
Presentation of the results of experiments on hBAG3 P209L mice
[2023, April]
First results of experiments on fibroblasts
[2023, March]
Delivering the mice to Gdańsk and starting their reproduction
In Germany:
testing the effectiveness of all siRNA variants for the BAG3 P209L mutation
creating and testing many Base Editor variants for mutation correction
further work on organoids created from iPSC-CM and attempts to induce disease symptoms
[2023, January]
Signing a research grant agreement with the University of Gdańsk
Delivery of fibroblasts to Gdańsk and start of experiments
Creation of the iPSC BAG3 P209L cell line from Krzyś's blood collected in June 2022
Creation of an isogenic iPSC cell line devoid of the BAG3 P209L mutation
[2022, December]
Establishing the rules of cooperation with the University of Gdańsk
Start of multiplication of mice (hBAG3 P209L) in Germany
Taking a section of Krzyś's skin for fibroblast culture at the Medical University of Warsaw
[2022, September]
In Germany, a lot of research is carried out at the University of Bonn on various cellular mechanisms initiated by cellular stress. One of them concerns exactly "our" mutation. The study in the first phase developed an animal model of the disease (currently the best in the world illustrating human disease). In the second phase, the project has the following objectives:
creation of iPSC-CM BAG3 P209L, i.e. cardiomyocytes grown from stem cells of sick children [it has already been done!]
preparation of a procedure for testing drugs or other compounds on the above cells [in progress]
screening of available drugs using the above procedure
development and testing of very advanced genetic tools for correcting mutated DNA on iPSC-CM cells
[Ongoing activities]
At the same time, we are conducting discussions:
with scientists from Poland, aimed at conducting drug tests on mice and/or on skin cells, i.e. fibroblasts
with scientists from the USA, with the participation of the Alexander's Way Foundation, aiming at creating a genetic drug
with scientists from the USA, with the participation of the Alexander's Way Foundation, aiming at discovering other methods of treatment
In our activities, we try to simultaneously support Polish science, which is why we are looking for scientists willing to cooperate.