Updates on key developments in genomics
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
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
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
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