Metachromatic leukodystrophy (MLD) is a rare genetic disorder of the nervous system, which, if left untreated, leads to severe disability and death in early childhood. New treatment options such as gene therapy are showing promising results, but they are only effective in the pre-symptomatic stage. A preliminary study has already successfully established a program for screening newborns to enable pre-symptomatic diagnoses. The aim of this project is to identify biomarkers through various molecular analyses that can predict disease onset in newborns before the appearance of symptoms and monitor the effects of treatment. It is hoped this will pave the way to implement newborn screening throughout Germany and to personalize the use of innovative gene therapies.

Furter information: https://www.medizin.uni-tuebingen.de/de/das-klinikum/mitarbeiter/profil/580