Diagnosing mitochondrial conditions: a WGS breakthrough

Mitochondrial conditions can be difficult to diagnose – but why, and how can genomic technology help?
Crowd of people making the shape of two kidneys viewed from above

Polycystic kidney disease and genomic testing

We explore genomics’ role in the cause, diagnosis and treatment of a complex kidney condition
Red blood cells in bloodstream

NICE approves RNAi therapy for porphyria

This week, we look at the latest gene silencing treatment approved by NICE – this time for an acute form of porphyria
Many icons representing Covid-19 and a large circle containing an icon representing a DNA helix

Sequencing Covid-19: 1 million genomes

As the UK reaches a mega sequencing milestone, we look at how the data could be used to better prepare us for the future
Artery with cholesterol build-up and stuck red blood cells

RNAi: a new approach to combat cholesterol

The new cholesterol drug inclisiran is currently making headlines after being approved for use in the NHS, but how does it work?
Crowd of people of different ethnicities, genders, backgrounds

New data diversity initiative launches

This week, we look at a transformative programme that aims to rapidly make genomic datasets more representative
Colourful silhouettes of people cut out of paper and arranged into a group

Screening the healthy for monogenic variants

As the NHS moves towards a preventative healthcare strategy, will genomic screening for healthy people become more common?

NHS targets better diabetes care with genomic testing

New initiative aims to find thousands of people with a rare, inherited form of diabetes

Newborn screening: time for a genomic approach?

This week, we explore how genomics could help expand the newborn screening programme to test for many more genetic conditions

PCR: more than just a Covid test

An old friend has been thrust into the limelight. We take a look at how PCR works and its place in Covid testing and beyond
DNA helix with a piece separated from it in front of a light source

Trial underway for hATTR therapy

The novel ‘one off’ treatment could change the lives of those living with the condition

Developmental disorder variants found in non-coding genome

This week, we explore new findings that link variants in the non-coding region of the genome to developmental disorders