Genetic deficiencies of lysosomal components, most commonly enzymes, are known as "lysosomal storage disorders" (LSDs) and lead to lysosomal dysfunction, broadly affecting peripheral organs and the central nervous system, debilitating patients and frequently causing fatality. This seminar will update clinicians and researchers on most recent advances in diagnosis, pathophysiology and management of Fabry disease as well as in emerging therapies in the treatment of LSD.

It has been scheduled for Monday, November 19, at 08:30 p.m., in the Hall of Teaching Hall (HUVH) Vall d'Hebron Seminar; Lysosomal disorders, a focus on Fabry's disease.

8:30      Opening session: Vall d’Hebron Hospital CEO & Director of Research Institute VHIR

9:00      Clinical management of Fabry disease.

            Chair: M. del Toro & G. Pintos-Morell

            Miguel A. Torralba (Hospital Clínico, Zaragoza): Pathophysiology of Fabry disease: the role of biomarkers and genetic variants

            Alberto Ortiz (Fundación Jiménez Díaz, Madrid): Overview of consensus treatment and precision medicine approach in Fabry disease

            José Rodríguez Palomares (Hospital Universitari Vall d’Hebron, Barcelona): Insights into cardiovascular involvement in Fabry disease

            Michael West (Dalhousie University, Halifax, Canada): What have we learned after 10 years of Canadian Fabry Disease Initiative (CFDI)?

11.00    Coffee Break

11.30    New therapeutic strategies for lysosomal disorders.

           Chair: N. Ventosa & S. Schwartz Jr.
           Ibane Abasolo (CIBBIM-Nanomedicine): Nanomedicine in lysosomal disorders. Project Smart4Fabry

           Roberto Giugliani (Porto Alegre, Brazil): Fusion proteins and other strategies to cross the Blood-Brain-Barrier (BBB)

           Michael West. (Dalhousie University, Halifax, Canada). Gene therapy clinical trial for Fabry disease

           Fàtima Bosch. (CBATEG-UAB): Gene therapy approaches for Sanfilippo A and other lysosomal disorders

13:30  General Discussion

15.00  Current state of the treatment of lysosomal disorders.
          Chair: J. Torrent-Farnell

          Personal experiences. Patients, relatives and healthcare staff.

18.00  Final summary, key messages to remember and farewell. Guillem Pintos-Morell

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