100,000 Genomes Project hits half way mark

21 Feb 2018, 4:02 p.m.

The pioneering 100,000 Genomes Project has reached the 50,000 genomes landmark. It’s a milestone that has only been made possible through the generous participation of tens of thousands of patients and their families, including 1,492 GOSH families.The project aims to sequence 100,000 genomes from around 70,000 people to help doctors better understand, and ultimately treat, rare and inherited diseases and various cancers.

Great Ormond Street Hospital (GOSH) leads the North Thames Genomic Medicine Centre, one of 13 regional centres which are responsible for coordinating recruitment of more than 100 patients a month. So far 12,315 genomes have been collected by the North Thames Genomic Medicine Centre including 4,142 genomes collected at GOSH and 1,492 GOSH families recruited.

In 2016 GOSH patients Georgia and Jessica were the first to receive a genetic diagnosis as part of the 100,000 Genomes Project. For patients with rare diseases, a diagnosis can remove a large amount of uncertainty for the families, often after many years of distress. The results can have a major impact on many areas of patient lives including future treatment options, social support and family planning. They also have the potential to help many more children with undiagnosed conditions who may be tested for these genetic mutations early on and be offered a diagnosis to help manage their condition most effectively.

Scientists discover clues to help children with rare muscle disease

New ground-breaking research by experts at Great Ormond Street Hospital (GOSH) and University College London (UCL) has led to an exciting discovery that could help children with the rare muscle disease, juvenile dermatomyositis (JDM).

What do bush babies, tamarin monkeys, and mouse lemurs have that humans don’t?

GOSH imaging researchers have worked with teams in Harvard in the USA to work out how and when our pelvises developed to be different from other animals.

Nanodiamonds and hormones used in rare condition to promote lung growth

An international research team led by GOSH, UCL and KU Leuven in Belgium, is using 3D-printing and nanodiamonds, to design treatments that could help babies repair their damaged lungs in the womb.

New national registry for inherited hearing loss

A new national registry is helping researchers understand more about inherited hearing loss – and could help bring about new treatments.