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# Amyotrophic lateral sclerosis (ALS)

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  1. arXiv

    Weakly annotated bioimages get domain knowledge: seven model families improve at once

    Automated feature extraction from weakly annotated bioimaging data performs inconsistently across datasets because models depend on the images alone. A model-agnostic knowledge augmentation method lets machine learning models exploit domain knowledge beyond automated feature extraction, improving classification across seven architectures; combined with masked autoencoder self-supervised learning it raises precision by 2.9% over the next-best method on three in-house microscopy datasets and by 6.8% on average across three public cytomorphology benchmarks.

    Jinendra Bogahawatte（First author）
    Knowledge AugmentationMasked Autoencoder-based Self-Supervised LearningTDP-43 Mislocalization ClassificationAmyotrophic lateral sclerosis (ALS)
  2. Nature News

    First for RNA therapy: man with rare motor-neuron disease improves after treatment

    A man with a slowly progressing form of motor neuron disease (ALS) caused by a rare CHCHD10 mutation became the first person to receive an RNA antisense oligonucleotide therapy targeting his specific disease-causing mutation; after three 50-milligram and three 75-milligram doses delivered into his spine between April 2024 and April 2025, he had no serious side effects, and one year later his blood neurofilament light chain levels had fallen to the normal reference range, his motor, breathing and neurological function scores had improved, breathing and cognition scores remained stable, and he continued to work as a physician.

    Antisense oligonucleotide therapyAmyotrophic lateral sclerosis (ALS)

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