Lucia Laugwitz

Clinical management of metachromatic leukodystrophy cases identified in the German and Austrian Newborn screening pilots

Abstract Background Metachromatic leukodystrophy (MLD) is a rapidly progressive leukodystrophy that leads to severe disability and early death if untreated. Autologous hematopoietic stem and progenitor cell gene therapy (HSPC-GT, atidarsagene autotemcel, arsa-cel) for early onset...

aiDIVA – hybrid AI for rare disease diagnostics using evidence-based, machine learning and language models

Abstract Genome sequencing enables accurate detection of genetic variants and is transforming rare disease diagnostics. While data generation is scalable, prioritization and clinical interpretation remain challenging, often requiring expert manual classification. AI-driven decisi...