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Montage of Rare Disease Day contributors: Baroness Nicola Blackwood (Chair Genomics England), Bina Shah (Founder Project 8p), Emily Crossley (CEO, Duchenne UK), Rose and Zeryk Hacking (rare disease family), Gary Lineker OBE (OHCC Ambassador) and Prof. Chas Bountra.
Rare Disease Day contributors: Baroness Nicola Blackwood (Chair Genomics England), Bina Shah (Founder Project 8p), Emily Crossley (CEO, Duchenne UK), Rose and Zeryk Hacking (rare disease family), Gary Lineker OBE (OHCC Ambassador) and Prof. Chas Bountra.

Rare Diseases affect 350 million people worldwide. There are over 7,000 known rare diseases and only 5% have an approved treatment, presenting a major global challenge.

Rare Disease Day is an annual international event raising awareness of rare diseases and their impact on the lives of millions. This year, Oxford hosted a webinar as part of the global virtual event series.  The Oxford-Harrington Rare Disease Centre (OHC), a partnership with the Harrington Discovery Institute in the University’s Department of Paediatrics, brings together Oxford’s significant rare disease expertise across departments.

The OHC hosted a guest lecture by the University’s Pro-Vice Chancellor for Innovation, Prof. Chas Bountra, entitled: Lesson from 2020: Together we can do the impossible, for Rare Disease Day. Highlighting the importance of collaboration, Prof. Bountra talked about how 2020 showed that, with the alignment of stakeholders and resources, what would have taken decades to achieve in the past can now be achieved in months. Years of research and infrastructure development in the University provide the foundations of an effective and rapid response to emerging challenges, whether the COVID pandemic or the global unmet need for rare disease treatments. The Department of Paediatrics hosts Oxford’s COVID-19 vaccine trials, where trials in children have now started.

Baroness Nicola Blackwood offered a message of support. From her own diagnostic journey and with her perspective as Chair of Genomics England, she shared her hope that expansion of genomic sequencing in patients and collaboration with the OHC will deliver much-needed treatments for multiple rare diseases.

Insights from rare disease patients and carers included Gary Lineker OBE, an OHC Ambassador, whose two-month-old son was diagnosed with, and subsequently cured of, a rare blood cancer.

Follow @OHRareDisease to keep up to date with news from The Oxford-Harrington Rare Disease Centre.

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