Blog articles

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
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
Medication on a pharmacy shelf

NHS to launch Innovative Medicines Fund

We look at an initiative that could change the lives of people with rare diseases by giving them access to cutting-edge treatments
Hands typing on keyboard with padlock 'data' symbols superimposed on top.

New platform to strengthen researcher-patient link

We explore how the platform will benefit its users and the steps in place to make sure it is ethical