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Unleashing the power of the genome to help children with rare diseases

27 Feb 2020, 12:17 p.m.

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

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Researcher holds pipette up in one hand and a test tube in the other in a laboratory.

Postdoctoral Research Associate - Institute in the Park, Alder Hey Children’s Hospital

CLOSED: Postdoctoral Research Associate - Department of Women’s and Children’s Health, Alder Hey Children’s Hospital

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Clinical Genetics clinics

The Clinical genetics department at Great Ormond Street Hospital (GOSH) runs a number of clinics in London and throughout the North East Thames region.

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Researcher in lab

NIHR GOSH BRC New Projects Call 2023

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.

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Appointment of new Director Designate of Biomedical Research Centre (BRC) at GOSH

30 Jun 2015, 12:27 p.m.

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

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A scientist holds a sample with gloved hands

NIHR GOSH BRC Theme New Projects Funding Call 2026

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

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Rare disease genome sequencing uncovers new diagnoses for patients

15 Nov 2021, 2:08 p.m.

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.

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MRCPCH Examination Excellence Training

Great Ormond Street Hospital (GOSH) has been running MRCPCH Mock exams since June 2016. The mock is based on the MRCPCH Clinical Examinations and candidates are able to get the full experience and conditions of a real exam setting and gain valuable …

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Adenosine deaminasedeficient severe combined immunodeficiency (ADA-SCID)

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

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A woman at work in a lab, looking into a microscope.

NIHR GOSH BRC Call for PhD Project Proposals

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.

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Two researchers smile and look into a machine in their lab.

For researchers

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Norman Hay

Orthodontics / Clinical Director North Thames Cleft Service

Special interests: Cleft Orthodontics, Facial Asymmetry, Long-term multidisciplinary clinical outcomes

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Annual General Meeting and Annual Members' Meeting 2022

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.

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Membership Strategy

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A close up of a pippet and test tubes.

NIHR GOSH BRC Early Career Researcher New Projects Funding Call

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.

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Children's Acute Transport Service (CATS)

The Children's Acute Transport Service (CATS) is a specialised service designed to make intensive care rapidly available to critically ill children in the North Thames and East Anglia regions.

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Conditions treated by the Endocrinology department

The Endocrinology Department at Great Ormond Street Hospital (GOSH) treat a range of conditions.

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Speech and language ideas while waiting for your baby’s cleft palate surgery

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

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A new, genetic diagnostic service for ciliopathy disorders has been launched

18 Dec 2015, 1:18 p.m.

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.

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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.

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