https://www.gosh.nhs.uk/news/rare-disease-day/
Rare Disease Day
28 Feb 2018, 5:32 p.m.
Today, Great Ormond Street Hospital (GOSH), along with GOSH Children’s Charity and Sparks, joined hundreds of organisations from all over the world in marking Rare Disease Day 2018.

Over in the Lagoon, hands-on activities for patients helped raise awareness of how research at GOSH is helping to find treatments and cures for rare conditions. Patients had the chance to make a family tree to learn about genetic research and look at muscle cells under a microscope to find out about the causes of rare conditions.

In addition, GOSH’s contribution to treating rare disease was featured in national press today. The Guardian Rare Disease supplement ran an article by Professor Bobby Gaspar, an immunology expert at GOSH, who shared how gene therapy can be an effective method to treat rare diseases, such as severe combined immunodeficiency (SCID). In The Times today, David Cameron shared how his son Ivan was born with an extremely rare neurological disorder called Ohtahara syndrome. His story highlights how specialist research centres such as GOSH are helping to find cures to treat incurable conditions.
As a world-renowned centre of excellence for children with rare and complex conditions, we shared facts and stats about rare diseases at GOSH on our social media channels, including highlighting that GOSH sees patients with more than 200 different of rare diseases and that we are home to 17 highly specialised services for rare diseases – the largest number of any NHS trust.

Also today, GOSH Children’s Charity and Sparks announced the results of their most recent Joint National Call which has made £2.1 million available for world-class child health research, to help find new ways to diagnose, treat and cure rare and complex diseases. Four researchers based at GOSH and ICH have received funding as part of the call.


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