Professor of Biochemistry and Pharmacology
Professor Platt obtained a BSc in Zoology at Imperial College University of London and a PhD in animal physiology from the University of Bath. She was a post-doctoral fellow at Washington University Medical School in St Louis, USA. She returned to the UK in 1989 (to the Biochemistry Department, University of Oxford) where she focused on how the abnormal accumulation of glycosphingolipids results in pathology in lysosomal storage diseases.
She was a Lister Institute Senior Research Fellow from 1996-2002. A major focus of her work has been on the development of substrate reduction therapy (SRT) to treat several of these disorders. Proof of principle of SRT was demonstrated in mouse models of these primarily neurodegenerative diseases. Dr Platt’s research, in collaboration with Dr Terry Butters, has led to the development of the approved drug miglustat/Zavesca for glycosphingolipid storage disease therapy.
Her current interests focus on the cell biology and pathobiology of glycosphingolipids and on the development of novel therapies for treating diseases resulting from defects in gycolipid metabolism and lysosomal dysfunction.
She moved to the Department of Pharmacology in April 2006 and was elected a fellow of the Academy of Medical Sciences in 2011.
Key Research Areas:
- Lysosomal storage disorders, pathogenesis and therapy
- The effects of lysosomal storage on the immune system
- Development of biomarkers for monitoring storage disease patients
- Lysosomal dysfunction in more common diseases
Genetic Background Modifies Phenotypic Severity and Longevity in a Mouse Model of Niemann-Pick Disease Type C1
PLATT F. and HUEBECKER M., (2020), Disease Models and Mechanisms
Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes.
PRIESTMAN D. et al, (2020), Human Molecular Genetics
NPC1 Deficiency in Mice is
Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal
PLATT F. and Rodriguez-Gil J., (2019), Journal of Clinical Medicine
NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.
Rodriguez-Gil JL. et al, (2019), J Clin Med, 9
Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease type C and Tangier disease.
Colaco A. et al, (2019), J Inherit Metab Dis
Sterile activation of invariant natural killer T cells by ER-stressed antigen-presenting cells.
Bedard M. et al, (2019), Proc Natl Acad Sci U S A
NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress.
Höglinger D. et al, (2019), Nat Commun, 10