Dr Amanda Choo

Amanda comes from a background in scientific research, having graduated with a PhD in Sciences (in the area of Genetics) from the University of Adelaide. She has previously worked on research projects studying Mucopolysaccharidosis Type III (MPS III, Sanfilippo Syndrome) and the tumour suppressor gene WW domain containing oxidoreductase (WWOX). Amanda has also worked as a University tutor for Medical Genetics. Since then, she has gone on to lead projects on developing genetic technologies for the horticultural sector, all whilst maintaining an active interest in human genetics. Amanda has a personal connection with rare disease, living with myasthenia gravis, and is passionate about using her scientific skills and knowledge to develop and provide customised, evidence-based information about rare diseases for the rare disease community.