Blog articles


100,000 Genomes Project 2021 update: rare disease

How has rare disease diagnosis and treatment improved in light of data gathered from the 100,000 Genomes Project? Find out in the second part of our series…
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
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

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

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
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

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