Huntington's disease, one of more than 50 inherited repeat expansion disorders, is a dominantly inherited neurodegenerative disease caused by a CAG expansion in HTT. Inherited CAG repeat length is the primary determinant of age of onset, with human genetic studies underscoring that the disease is driven by the CAG length-dependent propensity of the repeat to further expand in the brain. Routes to slowing somatic CAG expansion, therefore, hold promise for disease-modifying therapies.
View Article and Find Full Text PDFProc SIGCHI Conf Hum Factor Comput Syst
May 2024
Remote sighted assistance (RSA) offers prosthetic support to people with visual impairments (PVI) through image- or video-based conversations with remote sighted assistants. While useful, RSA services introduce privacy concerns, as PVI may reveal private visual content inadvertently. Solutions have emerged to address these concerns on image-based asynchronous RSA, but exploration into solutions for video-based synchronous RSA remains limited.
View Article and Find Full Text PDFGROUP ACM SIGCHI Int Conf Support Group Work
January 2025
Assistive technologies for people with visual impairments (PVI) have made significant advancements, particularly with the integration of artificial intelligence (AI) and real-time sensor technologies. However, current solutions often require PVI to switch between multiple apps and tools for tasks like image recognition, navigation, and obstacle detection, which can hinder a seamless and efficient user experience. In this paper, we present NaviGPT, a high-fidelity prototype that integrates LiDAR-based obstacle detection, vibration feedback, and large language model (LLM) responses to provide a comprehensive and real-time navigation aid for PVI.
View Article and Find Full Text PDFThis study was undertaken to explore the forces acting on the pes during pedal anchoring and to discern if pedal anchoring required the activation of the intrinsic pedal musculature. Replica feet equipped with strain gauges were moved over mud substrate, mimicking locomotion and pedal anchoring. Quantification of the substrate tracks demonstrated that they were similar to those made by freely moving , that the locomotor and pedal anchoring tracks were significantly different, and that the composition of the artificial feet significantly altered the tracks.
View Article and Find Full Text PDFEndocrine therapies targeting the estrogen receptor (ER/ESR1) are the cornerstone to treat ER-positive breast cancers patients, but resistance often limits their effectiveness. Notable progress has been made although the fragmented way data is reported has reduced their potential impact. Here, we introduce EstroGene2.
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