Advances in next-generation sequencing and next-generation metabolic screening have greatly improved diagnosis and increased our understanding of neurometabolic diseases. Novel neuroradiology techniques, such as diffusion-weighted imaging and proton MR spectroscopy, are also increasing our understanding of the disease mechanisms. Gene therapy is starting to fulfil its potential in the treatment of some neurometabolic disorders.
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In this episode, we explore the future of continuing medical education (CME) with the team behind touchIME. Hannah Fisher and Matthew Goodwin share insights into global and US trends, the importance of patient inclusivity and how educational outcomes are evolving to better measure the direct impact of learning on clinical practice and patient care.
Experts discuss optimization of multidisciplinary care of alpha-mannosidosis along the patient’s lifespan.
Leading experts in Pompe disease explore key data from WMS 2024 and WORLDSymposium 2025.
In this episode, we’re joined by Bradley Love, Professor of Cognitive and Decision Sciences at UCL, ELLIS fellow, and creator of BrainGPT. We discuss how this large language model is poised to assist researchers in advancing their work.
Fabry disease experts discuss early diagnosis, organ monitoring, long-term individualized care and future directions.
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