genetics

Rare Disease Day 28th February

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To mark Rare Disease Day (28th February) our genetics research centre organised an event in the university/hospital foyer to raise awareness of the difficulties #raredisease families face and to share some of the work we do.


Rare diseases are defined as those affecting fewer than 1 in 2000 individuals, but whilst a single rare disease may affect only a handful of patients, collectively as many as 30 million people in the EU alone could be affected. Importantly for many of these diseases, 80% of which have genetic origins, there is very little knowledge of the underlying causes and even fewer effective treatments. Members of our research centre work on a variety of rare diseases, trying to improve diagnosis by identifying #genes causing them, and developing therapies based on this information.

This was the first time we organised an event for Rare Disease Day, and so we were unsure of how well it would be received and whether or not we would get anyone stopping by. But we needn’t have worried as we had almost 200 people pass through on the day. We also had a great response on social media where we were posting short bios of our research centre members and their work throughout the day. 

 We were able to reach out to the general public and explain rare diseases to them, as well as students and staff from across the hospital and medical school. Many people were unaware of the research we undertake in the Genetics Centre and it was a pleasure to be able to share some of our latest discoveries and vital work. It was also a great way to interact with people and understand the public perception on rare diseases. Most people were really surprised to hear that although rare diseases are individually rare, collectively they are quite common. 

We all enjoyed taking part in the day, We’re looking forward to making next years event even bigger and better.


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