Genetics & Genomics

This webcast is based on a roundtable discussion on the optimal diagnosis and future management of lysosomal diseases. Three experts specializing in Fabry, Gaucher, and Pompe disease will raise key clinical questions and discuss how to overcome barriers in daily clinical practice across the lysosomal disease spectrum. The experts will provide an update on the long-term effects of ERT and highlight the remaining challenges, including the consequences of delayed diagnosis. They will discuss the role and importance of early diagnosis and treatment initiation, and provide perspectives on the recent advances in screening programs for newborn and high-risk populations. Lastly, the experts will address the position of emerging therapies and strategies for the optimal management of lysosomal diseases. 

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The American Academy of Neurology (AAN) Annual Meeting was held in Los Angeles, California, April 21-27, 2018.  The AAN annual meeting is the largest international gathering of neurologists and neuroscience professionals. In this activity, 2 experts summarize the key learnings from this year’s conference focusing on Alzheimer’s disease (AD).

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This webcast was recorded during a live symposium at the WORLDSymposium Meeting in San Diego, CA, USA, on February 7, 2018. During the symposium, experts from around the world discussed the key clinical questions and controversies in the diagnosis of Fabry disease and the future direction of clinical management. They also addressed the consequences of delayed diagnosis and treatment initiation, provided guidance on understanding available diagnostic options, and discussed genotype–phenotype correlations and their significance for daily clinical practice.

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