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’?
A hand in a blue glove places a labelled test tube into the middle of a line of other test-tubes, all with different coloured tops.

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
an Orcades testing lorry photographed in the countryside.

Distinctive cancer-causing variant found in families from Orkney

Origin of distinctive BRCA1 pathogenic variant found during the Orkney islands disease study, ‘Orcades'
The underside of a newborn baby's feet, showing the heels.

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
A baby in a blue sleep suit lies inside an incubator.

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
An illustrated group of people, featureless and in multiple bright colours.

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
An illustrated group of people, featureless and in multiple bright colours.

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
An illustrated group of people, featureless and in multiple bright colours.

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
An illustrated group of people, featureless and in multiple bright colours.

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
A row of test tubes full of neon pink liquid, each with a pipette dangling above it, drips of more pink liquid about to drop into them.

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
A pair of scissors snips a section out of a double helix

Base editing: What is it and what does it mean for healthcare?

This week, we take an in-depth look at the genome-editing technology that has been making headlines worldwide