Since 1985, I have been working on identifying the causes of hereditary muscle diseases, such as myotonic dystrophy and mitochondrial myopathies. Thanks to the rapid advancements in DNA research, this work has been highly successful. Currently, within the scope of routine patient care, the genetic defect can be identified in the majority of patients. This progress has led to increasing possibilities for prevention, including prenatal diagnosis and, uniquely in Maastricht, preimplantation genetic diagnosis for mtDNA defects.

Despite high expectations, the diagnostic success in clinical genetics has so far led to effective treatment options for only a limited number of patients. However, for those affected, the impact can be life-changing. For instance, our discovery of two new disease genes directly resulted in a life-saving therapy. Of course, this is only the beginning. We are now heavily investing in muscle stem cell therapy, initially for mtDNA patients and, if successful, expanding to those with other hereditary muscle diseases.