Research Fellows Directory
Professor Fran Platt FMedSci
University of Oxford
We are interested in a group of rare genetic diseases called lysosomal storage diseases. About 70 of these inherited disorders are known and they occur in the general population with a combined frequency of 1:5000 live births. Most have a neurodegenerative clinical course and typically affect infants and children. The vast majority of these diseases are without effective therapies. We previously developed a small molecule treatment (a drug called miglustat) that is currently prescribed to patients with two of these diseases, Gaucher disease and Niemann-Pick type C (NPC) disease. We have developed a major interest in NPC disease as by understanding this disease it tells us a lot about how normal cells work and in particular how the lysosome, the cells waste disposal and recycling centre functions.
In addition, we have found that inflammation is altered in this disease and a significant number of NPC patients develop an inflammatory disease of the bowel called Crohn's disease. By studying this rare genetic disease we are therefore gaining knowledge about the causes of more common diseases with a view to generating new therapeutics for treating both rare and common diseases. This year we have been investigating how a new therapy for NPC disease currently in clinical trials improves pathology in a mouse with the same disease. We found unexpectedly that the treatment rescues myelin, the membrane that wraps around our neurons to allow electrical signals to pass along them.
We have also identified two novel pathways defective in NPC disease and are studying the underlying mechanisms resulting in deficiency of these aspects of cell function.
Interests and expertise (Subject groups)