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This Conference underlined the reputation of Oxford as a leading global centre in the investigation of rare medical conditions. The presentations and discussions involving a diverse range of speakers and over 150 delegates exemplify the benefit of a highly collaborative approach to understanding the biology underlying rare diseases as a foundation for finding effective treatments. Opening the conference, Professor Dame Kay Davies emphasised the ultimate goal of the scientific research to discover cures for devastating rare diseases. The work and insights presented during the two-day conference offer real promise in attaining this goal. Beyond the value of advancing care for the many patients with rare and often life-limiting conditions, the shared biological and metabolic pathways discovered are providing insights into more common ailments.

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