
Genomic sequencing: A decade to a day
Curiosity, patience, and the humble pea plant are three fundamental factors that have allowed us to sequence an entire human genome in 24 hours

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 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

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

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

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