Updates on key developments in genomics

illustrated image of two health professionals in conversation

Experts through experience: Becky’s story

Today, as part of our #GenomicsConversation week, we hear from Becky about her daughter’s complex condition, which remains undiagnosed even after genomic testing
Health professionals questioning each other

The professional view: Kate’s story

As part of #GenomicsConversation week, Professor Kate Tatton-Brown shares her personal experience of the genomic testing process and how it feels for a health professional to be a patient
shelves in a pharmacy with a selection of prescription drugs

Pharmacogenomics: The future of preventing adverse drug reactions

In the second part of our pharmacogenomics blog series, we look at how new research could lead to a more effective application of drugs

Point-of-care genomic testing suggested for stroke patients

NHS stroke patients would benefit from a one-hour genomic test, given at the point of care, to see if clopidogrel should be given, a NICE draft report suggests
A baby's fist closed around the finger of an adult.

All about mitochondria: Donation and developing treatments

In the second part of our mitochondria blog series, we look at mitochondrial donation, how it works and the impact it could have for families
Render of a DNA helix

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

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
A row of test tubes containing double helixes.

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’?
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
A historical engraving from the 17th century that depicts the Black Death in Vienna

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
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

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 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

A ‘world first’ in pre-emptive pharmacogenomic testing

Researchers show a 30% reduction in adverse reactions to common clinically prescribed drugs through pharmacogenomic testing
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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