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L. Laugwitz

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Open access Oct 2026

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

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 subtypes and allogenic hematopoietic stem cell transplantat...

L. Laugwitz, Pascal Martin, N. Janzen et al. · 0 citations
#explainable ai Open access Aug 2026

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

aiDIVA is presented, an ensemble-AI combining statistical and machine learning models trained on genomic and phenotypic data to identify causal variants among tens of thousands per patient, and applies a random forest model to classify pathogenicity and generates evidence-based scores for dominant and recessive disease...

D. Boceck, L. Laugwitz, M. Sturm et al. · 1 citation

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