Content for Families, Carers and Professionals

Rare Disease Day - Glasgow University

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Ralph Hector profile 1The last day of February each year is International Rare Disease Day, a day to raise awareness with policy makers and the public of rare diseases and of their impact on the lives of patients. We’ve never had an event in Glasgow linked to Rare Disease Day, and through the New Initiatives Fund at Glasgow University I was able to secure some funding to organise an event at the university.

We have a big new hospital in Glasgow (now one of the largest in Europe) that also houses the new children’s hospital and genetic diagnostic department, so one of the goals of the day was to make closer links between researchers at the university and clinicians and researchers at the hospital.

We had great talks by Daniela Pilz and Ruth McGowan of the West of Scotland Genetics Service, and by research fellows Joe Symonds and Mark Hamilton, who talked about their research into epilepsy and myotonic dystrophy, respectively. Maria Oto told us about her work at the Quarriers Epilepsy Centre and I gave a talk about our group’s research into therapies for Rett syndrome and CDKL5. All these talks fitted in with this year’s theme of ‘research’, but I was keen that we also had a talk from a family perspective. So, I was delighted that Carol-Anne took up my invitation, came to Glasgow for the day and gave a fantastic talk. It really makes a difference to have talks like this and it reminds everyone working in research and on rare diseases why we’re trying to make a difference, and who for.

We had quite a varied audience, including students from the neuroscience, genetics and medical genetics courses at Glasgow University. Hopefully we piqued some interest in our researchers of the future! We also had information stalls on the day from CDKL5 UK, Rett UK and our Glasgow genetic diagnostic department. I’m grateful to everyone who contributed to the day and made it a success. We got very good feedback from our attendees, so hopefully we can run this event again next year and continue to raise awareness about rare diseases and research.

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