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Topic: Advancements in Diagnosis and Treatment of Fabry Disease 1.0
Prof. Guillem Pintos-Morell obtained MD and PhD (Paediatrics)
degrees, at Autonomous University of Barcelona (UAB) and University
Hospital Vall d’Hebron, Barcelona. Fellowships in Paediatric
Nephrology (INSERM-Paris, France) and Pediatric Genetics and
Metabolism at UCSD, San Diego, USA. Ex-President of the Spanish
Association of Inborn Errors of Metabolism (AECOM, 1999-2005).
Clinical Director of Rare Diseases at University Hospital Vall d’Hebron
and UAB professor of Paediatrics until Sept 2020. Senior consultant of
Rare Diseases and Hereditary Metabolic Disorders at Vall d’Hebron
Barcelona Campus (European Reference Network - MetabERN) and
CIBBIM-Nanomedicine (Smart4Fabry) (Vall d’Hebron Research
Prof. Guillem Pintos-Morell Institute - VHIR). Retired from Institut Català de la Salut (ICS) in
September 2020. Main scientific and research interests are Lysosomal
Storage Disorders (LSDs), Urea Cycle, and Amino Acid and Organic
Acid Disorders, including liver transplantation in hereditary metabolic
diseases. Member of AECOM, SSIEM, ICORD (International
Conference on Rare Diseases and Orphan Drugs) and member of the
Scientific Committee of IRDiRC (International Rare Disease Research
Consortium). Research collaboration from April to October 2021, with
“Fundació per la Lluita contra la Sida” in a clinical trial of COVID-19
treatment.
Prof. Derralynn Hughes is Clinical Director of Research and
Innovation at the Royal Free London NHS Foundation Trust, Professor
of Experimental Haematology at the University College London, UK
and Clinical Director of the NCL cancer Alliance. She is also chair
of the European Working Group on Gaucher Disease. She has clinical
responsibilities in the area of Haematology and Lysosomal Storage
Disorders and is chair of the anaemia clinical practice group. She directs
the research programme in the LSD unit research laboratory where
interests include understanding the pathophysiology of phenotypic
heterogeneity in Fabry Disease and bone related pathology in Gaucher
disease and malignancy. Prof Hughes is Principal Investigator of a
Prof. Derralynn Hughes number of clinical trials examining the efficacy of Enzyme, Chaperone
and gene therapies and other new agents in the treatment of Gaucher,
Fabry, Pompe and MPS disorders. A particular interest relates to the
clinical and biological effects of bone disease and malignancy in
Gaucher disease. She is an author of over 150 papers in the area of
macrophage biology and lysosomal Storage Disorders.
