Updates on key developments in genomics


All about mitochondria: Definition and disease
In the first of two blog posts about mitochondria, we explore what they are and how they can cause health conditions

The DDD study: Delivering diagnoses
Thousands of children have received results thanks to the DDD study – we look at some of the factors responsible for its success

The 100,000 Genomes Project and the DDD study: A recap
We look at the background, aims and achievements of two of the most influential genomics studies of the last 15 years

The power of three: The importance of trios in diagnosing disease
Trio testing can help clinicians deliver a diagnosis at a much higher rate than testing just the patient alone, as research shows – but what is a ‘trio’?

Liquid biopsy: A closer look
We take a deep dive into the genomic test that researchers hope will improve treatment for cancer patients

Test trialled to improve treatment for bowel cancer patients
Post-operative cancer patients may avoid side effects from unnecessary chemotherapy thanks to a genomic test

Evolution of immunity: The genomic link between Covid-19, Crohn’s disease and the Black Death
New research shows that the same genes that helped our ancestors survive the bubonic plague are still hard at work today

Distinctive cancer-causing variant found in families from Orkney
Origin of distinctive BRCA1 pathogenic variant found during the Orkney islands disease study, ‘Orcades'

New genetic condition to be included in UK newborn screening
The rare condition tyrosinaemia type 1 may soon be included in national newborn blood spot screening

Three things we learnt from the discovery of DNA’s structure
It’s 70 years since Watson and Crick proposed DNA’s structure; we look at this milestone in our understanding of the building block of life

A ground-breaking new gene therapy has saved the life of its very first NHS patient
A baby girl is showing no further signs of the fatal genetic disorder metachromatic leukodystrophy after treatment with an exciting new gene therapy

A ‘world first’ in pre-emptive pharmacogenomic testing
Researchers show a 30% reduction in adverse reactions to common clinically prescribed drugs through pharmacogenomic testing

Stories of rare disease: Sara and Freya
In this fourth and final instalment of our rare disease blog series, we look at what happened when Sara received an unexpected diagnosis from her daughter Freya’s whole genome sequencing

Stories of rare disease: Zainab
This third article in our series for Rare Disease Day 2023 tells the story of Zainab, who was diagnosed with a non-genomic rare condition at the age of 15

Stories of rare disease: Melanie and Saskia
In the second article in our series, we share the story of Melanie’s long journey to finding a genomic diagnosis for her daughter Saskia

Stories of rare disease: Aisha
To kick off our blog series for Rare Disease Day 2023, we share Aisha’s story of living with Morquio syndrome and look at the impact that healthcare workers can have on a patient’s journey

Stories of rare disease: Introducing our new blog series
In honour of Rare Disease Day 2023, this week we’ll be sharing patients’ stories of living with rare disease and the role genomics has played in their journeys

What are genome editing and gene therapy?
Gene therapy and genome editing technologies are increasingly being reported on in the news and discussed in medical literature, but what are they?

Cancer vaccines: Three things you need to know
We shine a spotlight on RNA-based immunotherapies, which are fast becoming a major healthcare focus in the UK

NHS patients to get 'early access' to new RNA cancer vaccines
NHS cancer patients will be able to access emerging RNA-based immunotherapies thanks to a newly announced partnership between BioNTech and the government