Metachromatic leukodystrophy (MLD) is a rare, rapidly progressing neurodegenerative disease. For several years now, a gene therapy based on autologous hematopoietic stem cells has been available, allowing affected children to develop almost normally—provided the disease is detected before symptoms begin.
To make this possible, Dr. Lucia Laugwitz and Prof. Dr. Samuel Gröschel at University Hospital Tübingen, together with the Screening Center Hanover, have successfully established a pilot project for newborn screening for MLD. The project is closely accompanied by the European Leukodystrophy Association (ELA), the central patient organization in the German-speaking region and beyond.Around 350,000 newborns have already been screened, nine affected children have been identified and treated at the University Children’s Hospital Tübingen before any symptoms appeared. Dr. Laugwitz’s work exemplifies how research, diagnostics, and care must interconnect so that medical progress truly reaches families.
The Eva Luise Köhler Recognition Award, endowed with €15,000, honors Dr. Laugwitz’s dedication as a clinician scientist at the intersection of laboratory, clinic, and health system. At the same time, this award sends a strong signal to further pursue the nationwide implementation of newborn screening for MLD.
Dr. Lucia Laugwitz is a clinician scientist at the University Children’s Hospital Tübingen. She works in neuropediatrics and combines clinical care with translational research in the field of rare neurodegenerative diseases. In her work, she links clinical practice, laboratory analytics, and health system-related questions. She is particularly interested in the early identification of treatable metabolic diseases in newborns and the structural further development of screening programs in Germany.
