Today, Wednesday 22 November, the government announced its support for the Rare Therapies Launch Pad, a new programme that will develop a pathway for children with rare conditions to access individualized therapies.
The Oxford-Harrington Rare Disease Centre (OHC) in the Department of Paediatrics has a central role in the delivery of this programme, alongside Genomics England, the Association of the British Pharmaceutical Industry and the Medicines and Healthcare
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When Niamh McDonagh was born with an extremely rare genetic variation, her parents were told little could be done for her. They decided to use their skills as biologists to recreate the specific mutation and understand it better. Their work is based on cutting-edge research helping to develop targeted medicines