New development in gene therapy

In 2012, genetic engineering made a major breakthrough with the discovery of CRISPR/Cas 9. CRISPR/Cas 9 is a method that specifically generates mutations at a predetermined position in the genome in order to obtain desired characteristics.

The molecular biological tool is also known as genetic scissors or genetic surgery. The technique can be used to replace individual base pairs in genetic material, for example to correct a disease gene. It can also be used to create a mutation at a predetermined location in the inheritance so that protein production from a particular gene is stopped, or to insert a gene at a specific location in the inheritance.

Successes by CRISPR/Cas 9

Various genetic blood diseases were successfully cured with CRISPR for the first time in 2019. Although the technology is now available, each genetic disorder must be considered separately and further research is needed before a therapy for laminopathies is possible.

You want to know more about how CRISPR works?

Current research approaches

The research interest in laminopathies is not particularly great, but is growing due to the great commitment of affected families and the new technical possibilities. Among other things, a research project is currently underway in Paris, under the direction of Gisèle Bonne, to better understand the disease and its symptoms.

At the Max Delbrück Center in Berlin, an institute of the Helmholtz Association and the Charité, Prof. Dr. Simone Spuler and her team have been working for a long time on the development of possible therapies for muscle diseases. Now, the institute plans to start researching a therapy for genetic defects on the LMNA gene from 2021, in order to be able to have a positive effect on the course of the diseases. This is great for Maje!

The results could give hope to many affected people to stop the disease!

However, the start of the project is dependent on the approval of funds from the German Research Foundation. Whether the project will be supported will become clear in the course of 2020.

Maje in Berlin

In June 2019 we met Dr. Spuler and her team in Berlin. She guided us through her institute and convinced us of her research approach and experience. Therefore, we decided to use the  generous donation of 226.000 Euro to finance a first LMNA project at the Max Delbrück Center.

Maje with her brother in the laboratory of Prof. Dr. Simone Spuler

Majes cells at Max Delbrück Center

The research project was launched in January 2020 with the blood sample taken from Maje. Socalled iPS cells are produced from this blood. These are pluripotent stem cells on which the mechanism of the genetic defect is to be investigated. This is expensive, a lot of work and takes 6-8 months including the final characterization. The cells are fed daily. In addition to the production for research purposes, the researchers* hope to assemble a sample that can be stored under GMP (good maufacturing practice) in order to be able to use it therapeutically later on. Whether this will succeed is still unclear.

While the cells are reprogramming, sgRNAs (guide-RNAs) are designed and produced with which the mutations are to be corrected. The researchers* first try out the sgRNAs on normal cells. Whether they really work will only become clear when Majes iPS cells are produced. At the same time, a so-called humanised mouse model with Majes mutation is to be produced. This is a mouse that is bred with Majes’ genetic defect and accordingly shows its symptoms, so that possible therapies can be tested. This will take a whole year. In summary, a kind of “tool box” will be produced: iPS cells, a CRISPR/Cas9-based repair strategy, and a personalised mouse model. These are absolutely important prerequisites for future therapy trials.

Listen to the podcast of Prof. Dr. Spuler, in which she explains how she and her team work.

How can I Help?

Research is expensive. Rare diseases in particular are less in focus when it comes to deciding on the allocation of research funds. In order to advance research independently of government decisions, we are collecting funds together with the German Muscular Dystrophy Aid (Deutsche Muskelschwundhilfe), which exclusively supports research projects in the field of LMNA mutations.

Every donation helps to win the battle against time!

The long way to diagnosis