Updates on key developments in genomics

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
3D render of cancer cells

Combating cancer: POLQ inhibitors

We explore a novel treatment that could help treat cancer by preventing DNA repair in tumours

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

SCID gene therapy trial publishes results

This week, we look at a significant breakthrough for the treatment of severe combined immunodeficiency
Old pictures in a pile. No recognisable faces or text.

DTC testing: time to step in?

As DTC testing becomes more accessible and popular than ever, we ask whether more regulatory work could – and should – be done 
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

Genomics in practice: ‘Midwives should explore opportunities’

In our third Q&A for the #GenomicsConversation, we talk to midwife Charlotte Rose about why she was inspired to build her career in genomics

Genomics in practice: ‘We are generation genome!’

In the second of our #GenomicsConversation Q&As, gynaecology cancer nurse Tracie Miles reveals how her patients inspired her to get into genomics

Genomics in practice: ‘Nurses have a big role!’

In our first #GenomicsConversation Q&A, we speak with inherited cardiac conditions nurse Tootie Bueser about how genomics is shaping nursing practice