Blog articles


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

SCID gene therapy trial publishes results

This week, we look at a significant breakthrough for the treatment of severe combined immunodeficiency
Young girl looking apprehensive while speaking to health visitor

Start the conversation: genomics in health visiting

As part of this year's #GenomicsConversation week, we talk to Sally Shillaker about the vital role genomics plays in health visiting practice
Illustration of lungs with DNA helices

Asthma and the genome

This week, we look at a common condition – asthma – and the role our genome plays in its onset
Mother holding baby's hand

New gene therapy launches in the UK

Baby Arthur becomes one of the first children to benefit from the landmark SMA treatment after NHS launch
Adult holding baby's hand in hospital

NICE approves new SMA gene therapy

NHS England has made a deal on a new, life-saving treatment for the most severe form of the condition
Mother holding the hand of her newborn baby

First polygenic cause found for neonatal diabetes

A new study has found the first ever polygenic cause for diabetes in children younger than six months of age
Young adult speaks to a group sitting in a circle

GEP fellow publishes new study

The benefits of involving young people in genome sequencing decision making are explored by GEP fellow Dr Celine Lewis in her recently published study

Newborn screening: the pros and cons of genome sequencing

Could genome sequencing replace the blood spot test? We review the potential benefits and drawbacks of a more direct approach to screening

What is whole exome sequencing?

Following the recent NHS announcement that WES will be used for critically ill babies and children, we explore what it is and the benefits it could bring

Newborn screening: time to expand the list?

Genetic Alliance UK’s newborn screening patient charter sets out why the UK should extend its programme - and establish a pilot for genome sequencing at birth

News articles


Trent Beard film

2020: the year for whole genome sequencing in the NHS

Learn more about this new, revolutionary test with our free, flexible, online course, which explores how it works and how it can benefit patients.