Rare diseases

The UNIPRENEURS Initiative has recognized the entrepreneurial spirit of 20 professors, among them ECRC researcher Simone Spuler. As a co-founder of the startup MyoPax, she is pioneering stem cell technology to develop regenerative therapies for previously incurable muscle diseases.

The stem cell therapy developed by MyoPax, a spin-off from the Max Delbrück Center and Charité, could soon be helping children with previously incurable muscle diseases thanks to an accelerated approval process. The necessary clinical trial will start in the fall.

Michael Bader’s lab and six other European research groups are working to develop new methods to diagnose and monitor the progression of two kidney diseases. Both disorders are caused by an overactive unit of the body’s immune system. The researchers will receive €1.9 million for the project.

Sarah Hedtrich heads a guest group at the Max Delbrück Center. The Johanna Quandt Professor at the Berlin Institute of Health at Charité (BIH) is working on organ-on-a-chip models to develop new treatment options for rare hereditary and inflammatory skin and lung diseases.

The Robson lab at the Max Delbrück Center will be studying how the 3D structure of chromatin controls genes during development and in disease. Leveraging novel single cell methods, they will look at muscular dystrophies and retinal disease. Both seem to be linked to mutations that disrupt the function of non-coding DNA.

MyoPax develops regenerative therapies for previously incurable muscle diseases. An interview with co-founders Prof. Simone Spuler and Dr. Verena Schöwel-Wolf, now board member and CEO respectively

A group of international researchers – among them Stephan Mathas from the ECRC – has found that changing a single segment of the genome causes a previously unknown immunodeficiency in humans. The paper, which appears in Science Immunology, reports the discovery of a point mutation in the transcription factor IRF4.

MyoPax, a new spin-off of the Max Delbrück Center and Charité, receives a 1.3 million euros loan to jump-start its entrepreneurial activities. The start-up develops regenerative therapies for previously incurable muscle diseases using its innovative muscle stem cell technology.

Eduardo Silva Ramos has been awarded a fellowship by the Huntington’s Disease Society of America. The MDC researcher intends to further investigate a protein complex that may have a critical influence on a mutation at the root of Huntington’s disease and use this as a starting point to develop new treatment methods.

Every year in Germany, around seven boys are born with an incompletely formed urethra and urethral sphincter. These children often remain incontinent. ECRC researchers want to find out whether a stem cell transplant could help them. The trial has been awarded approximately €4.3 million in funding from the Federal Ministry of Education and Research (BMBF) and the Berlin Institute of Health (BIH) at Charité.