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Date: 13 December 2018

Time: 15:06

(L-R): Michelle Grinham, Farfia Capper, Daniella Lynch, Lloyd Lynch, Alice Longe

Rare Disease Day celebrated at QEHB

Story posted/last updated: 12 March 2018

Patients, members of the public and staff at University Hospitals Birmingham NHS Foundation Trust (UHB) braved the cold to find out more about rare diseases on 28 February.

Stands representing the Centre for Rare Diseases (CfRD) and West Midlands Genomic Medicine Centre were in the Queen Elizabeth Hospital Birmingham (QEHB) Atrium to celebrate Rare Disease Day.

The event featured posters, leaflets, wristbands, and interactive activities, all aimed at showcasing the rare disease facilities available at UHB.

A genomics-based board game, where contestants answered multiple-choice questions to win prizes, proved particularly popular.

Katherine Jennings, from Quinton, was the first person to play the game.

“I think events like these are an excellent way for people to find out about medical things,” said Katherine.

“I’d only come in for an eye appointment, but it was really good fun finding out more about genomics, and how it could help those with rare diseases.”

Farfia Capper, Senior Research Sister at the CfRD, said: “It was great to see so many people on Rare Disease Day and tell them all about the latest exciting developments.

“For example, some people in the West Midlands have recently received genetic diagnoses for their rare disease.”

The CfRD has welcomed thousands of patients since opening in 2015, helping people with a rare disease to see all relevant specialists and the multi-disciplinary team in one visit.

It is based in the Institute for Translational Medicine, and has been supported by the Queen Elizabeth Hospital Birmingham Charity.

UHB is the lead organisation for the WMGMC, one of 13 centres nationally recruiting for the 100,000 Genomes Project.

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