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.

At GOSH we see patients with over 200 different rare diseases

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.

GOSH delivers 17 highly specialised services for people with rare and complex conditions

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.

Map showing research projects around UK

New research analyses key immune cell

A new study led by researchers at University College London Great Ormond Street Institute of Child Health has found that women have a higher proportion of key immune cells between puberty and menopause.

Say thank you to a nurse that's helped you

The DAISY Award is an international recognition programme that honours and celebrates the incredible work of nurses and midwives. You can nominate a registered nurse for three different categories - here's how.

First patient treated with groundbreaking gene therapy trial

A baby boy born with a rare condition has become the first in the world to be treated with a new, potentially lifechanging, investigational gene therapy on a clinical trial at Great Ormond Street Hospital (GOSH).

Professor Darren Hargrave appointed NIHR Senior Investigator

We’re delighted to announce that Professor Darren Hargrave has been named as a NIHR Senior Investigator in this year’s prestigious awards list.