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Dr. Lucia Laugwitz is a Clinician Scientist and Child Neurologist in Training at the Department of Neuropediatrics and the Institute for Medical Genetics and Applied Genomics at the University of Tuebingen. She specializes in neurogenetic disorders, with a particular focus on leukodystrophies and lysosomal storage diseases.
Dr. Laugwitz’s research explores the molecular mechanisms underlying lysosomal storage diseases, utilizing OMICS techniques to investigate genetic and biochemical pathways involved in neurodegenerative conditions. Her work contributes to early diagnosis and therapeutic advancements, ensuring that children with rare neurological disorders receive specialized care.
She is actively involved in the MLD Initiative Network, collaborating with international research teams to refine newborn screening approaches for metachromatic leukodystrophy (MLD). Her studies aim to improve early detection and intervention strategies, helping optimize treatment outcomes for affected infants. She has contributed to European consensus-based recommendations on clinical management of MLD, shaping guidelines for presymptomatic treatment.
Beyond her research, Dr. Laugwitz has co-authored studies on neurodevelopmental disorders, pontocerebellar hypoplasia, and mitochondrial diseases, advancing knowledge in pediatric neurology and neurogenetics. She collaborates with multidisciplinary teams, integrating expertise in genetics, neurophysiology, and metabolic disorders to refine diagnostic tools and therapeutic approaches.
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