Updates on key developments in genomics

Interpretation of genomic data surrounded by circular screens

100,000 Genomes Project 2021 update: cancer

In the first instalment of a two-part series, we look at how the 100,000 Genomes Project continues to impact cancer care

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
Artistic interpretation of a neanderthal male walking towards a modern day male with a DNA helix in the background

Covid-19 'neanderthal' gene variants explained

In light of new research, we revisit the role our genome plays in the severity of Covid-19 symptoms
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
3D render of a chain of molecule

Reading DNA - where to start?

This week, we learn all about directionality in DNA and why it matters

World-first study shows WGS improves diagnostic journey

Impressive results make the case for the adoption of whole genome sequencing as "the genetic test of choice for rare disease patients"
Illustration of a kidney and blood pressure monitor being investigated by a doctor.

Genes, hormones and blood pressure

This week, we explore genomics’ role in primary aldosteronism – a hormone disorder that leads to high blood pressure
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

GEP fellow publishes RNA splicing study

Jamie Ellingford and his co-authors explore the potential of computational tools to help us learn more about the messages our genes create

Epilepsy and the genome

We know that epilepsy can have a genetic cause, but there is still much to discover. We explore findings from two new studies to learn more
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?
Render of a human brain with representation of activity

Parkinson's disease: understanding the cause

In light of new research, we explore the role genes and their products can play in the onset of Parkinson’s disease
Red blood cells in bloodstream

Cell-free DNA: detecting disease

We look at how cfDNA could be used to diagnose LMD – a life-threatening condition that is currently difficult to detect
Render of Covid-19 virus cells and DNA helices

Covid-19: susceptibility and the genome

An international collaboration has discovered new links between our genome and the variable onset and severity of Covid-19

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