Dr Emyr Lloyd-Evans’ interest in lysosomal diseases emerged during his Masters degree in biochemistry when he worked on the role of excitotoxic Ca2+ signalling in the pathophysiology of Gaucher disease in the lab of Prof Tony Futerman at the Weizmann Institute, Israel. From there he moved to the lab of Prof Fran Platt at the Glycobiology Institute, Oxford to work on Niemann-Pick disease C, together they developed and patented lysotracker as a biomarker for this disease and conducted the first off label study of miglustat in an NPC patient. Moving to the Department of Pharmacology, Oxford, he worked with Profs Platt and Galione to develop lysosomal Ca2+ assays, identifying NPC disease as the first human disease with abnormal lysosomal Ca2+ levels and signalling, and assisted with characterising the cellular roles of the lysosomal two pore Ca2+ channel. Since moving to Cardiff in 2010 as an RCUK fellow he has established his own research lab working on Batten disease and diseases of ageing, studying lysosomal processing and Ca2+ signalling defects in cell and zebrafish models and developing small molecule therapies. In recent years he has assisted patient organisations and pharma with drug development, including BBDF-101 an experimental clinical therapy for CLN3 disease, and established an off label clinical study of an experimental drug in CLN5 disease patients. Together with colleagues across Cardiff he has an emerging interest in exploring the causes of cystine accumulation within lysosomes of NPC1 and CLN3 disease and in exploring treatments for this in conjunction with cystinosis.
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