With 80% of rare diseases having a genetic component, understanding a person’s genome – their unique sequence of DNA and complete genetic code – has a huge part to play in both diagnosis and care for patients and their families. Dr Daniel Gale, Rare Dise
The Clinical genetics department at Great Ormond Street Hospital (GOSH) runs a number of clinics in London and throughout the North East Thames region.
CLOSED: The call aims to fund novel translational research ideas, which seek to develop new therapies, biomarkers, diagnostics or surgical interventions to benefit children and the adults they will become with rare and/or complex conditions.
Great Ormond Street Hospital for Children NHS Foundation Trust and the Institute of Child Health, University College London are pleased to announce that, following an international search, Professor Thomas Voit, MD, Dr. med. habil., has been appointed Dir
Closed: The NIHR Great Ormond Street Hospital Biomedical Research Centre (NIHR GOSH BRC) New Projects Call aims to fund novel translational research into childhood illnesses
A world-first scientific study with major involvement from GOSH, published in the New England Journal of Medicine, has shown that whole genome sequencing (WGS) can uncover new diagnoses for people across the broadest range of rare diseases.
This page has been produced jointly between PID UK, Great Ormond Street Hospital (GOSH) and the Great North Children’s Hospital. It describes the adenosine deaminase (ADA)-deficient specific form of severe combined immunodeficiency (SCID) and should be re
CLOSED: Staff at GOSH and ICH are invited to submit a project proposal for a PhD studentship, which we will consider for inclusion in the portfolio of projects for students to apply to.
We are delighted to invite you to our AGM taking place on Wednesday 7th September 2022. The meeting will be a celebration of our partnerships and how they helped shape our success in 2021/22.
CLOSED: NIHR GOSH BRC has launched a call for early career researchers at GOSH and ICH to apply for funding to pump-prime innovative new projects across our strategic research themes.
If you are waiting for your child’s palate to be repaired, you might be wondering if this will affect their speech. The good news is there are plenty of things you can do at home to help with speech and language development during this time as you wait fo
In a collaboration between Great Ormond Street Hospital (GOSH) North-East Thames Regional Genetics and the UCL Institute of Child Health, a new genetic diagnostic service for ciliopathy disorders has been launched for service delivery to the NHS.
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.
