The conference began with an introduction to Findacure, which is a UK charity that builds the rare diseases community to drive research and develop treatments. It works towards empowering patients through online portal, webinars, patient workshops, peer mentoring and raising awareness.
The conference threw light on rare diseases in the UK such as fibrodysplasia, congenital hyperinsulinism, achondroplasia and osteogenesis imperfecta. The discussion then moved to repurposing of drugs being the need for the hour, since getting grants, for research for small number of patients is difficult. Discovery of a new drug for a rare disease is also time consuming. Marketed drugs have known information regarding safety and adverse events. Repurposing would mean using already marketed drugs for new/rare diseases. It would therefore save time and cost.
There was a brief discussion on orphan and ultraorphan drugs. It was followed by a discussion on the hierarchy of prescribing off-label or unlicensed medicines to patients with rare diseases. The conference had an interesting touch because of patients with rare diseases who came forward to share their experiences.
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