Bridging the gap between scientists and citizens: basic research can be accessible for all: An interview with Sharon F. Terry

[摘要] In 1994, Sharon Terry’s two children, aged 5 and 7,were diagnosed with pseudoxanthoma elasticum(PXE), a rare genetic disorder characterised by themineralisation of some elastic fibres, leading to premature ageing, potentially including vision loss and vascular disease. Following the devastating news, Sharon(a former college chaplain) and her husband (a manager at a building enterprise) dived into the scientificliterature to find out all there was to know about thedisease, which at the time was very little indeed. Undeterred, they built a biobank for DNA and tissues fromPXE patients, did some wet lab research to search forthe gene involved, and founded PXE International, anorganisation devoted to providing information andsupporting individuals with PXE as well as fundingresearch on the disease. Sharon then joined (and eventually led) Genetic Alliance, a much larger nonprofitcorporation, which provides support to organisationsassisting families facing genetic diseases. Genetic Alliance aims to engage the community in transforminghealth systems to respond to patients’ needs. Sharon iscurrently a member of several international andnational committees involved in health and sciencepolicies, such as the International Rare DiseaseResearch Consortium and All of Us. She has receivednumerous awards and honorary recognitions for herremarkable efforts and achievements and has a TEDtalk with more than a million views [1].In this interview, Sharon Terry talks about her experience and shares her views on how scientific researchresponds to the needs of the community.