Updates on key developments in genomics

Genomic approach predicts risk of oesophageal cancer

Can we use genomics to accurately predict the development of cancer in those with precursor conditions? We look at newly published results from a 15-year study to find out

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

Breakthrough in the battle against neurodegenerative disease

New genomic research could shed light on the cause of two life-limiting neurodegenerative conditions and provide targets for potential therapies and treatments

How genomics is changing vaccines

The speed at which a vaccine is developed can be crucial. RNA vaccines are cheaper and faster to make, but there's yet to be one licensed. Will this change with Covid-19?

The quadruple helix: a new epigenetic marker?

We all know what DNA looks like, or do we? We take a look at why the quadruple helix can occur and how it could unlock new avenues for cancer therapy

What are copy number variants?

Everyone has unique variants in their genome - and many are harmless - but which types can have an impact on our health and how do they occur?

Mitochondrial disease: the genomics challenge

Mitochondrial diseases are overwhelmingly genetic in origin, so why are gene therapies so difficult to develop? We take a deep dive to find out more.

How NHS research is finding new ‘rare disease genes’

As whole genome sequencing becomes more accessible, our understanding of rare disease is advancing at speed. We look at the latest findings from two NHS studies.

New genomic data studies launch to combat Covid-19

How can genomic data help in the fight against coronavirus? We look at the pros and cons of two new approaches

What is NIPD?

Non-invasive prenatal diagnosis can provide vital information about a pregnancy, but when should the technique be used, and how does it differ from NIPT?

Genome editing trial suggests cure for blood diseases

Recent tests have established a potential cure for sickle cell disease and beta thalassaemia by using genome editing on bone marrow stem cells

The impact of Covid-19 on rare disease communities

Guest author Dr Christine Patch explains the challenges in supporting patients with rare disease during the pandemic, as well as the opportunities that may arise

Genomic trigger found for inflammation

Could we ‘turn off’ our body’s unwanted immune responses? New research has found a genetic switch in our non-coding DNA that could help treat complex allergic disease

Rapid exome sequencing: a look inside the lab

Clinical scientist Dr Julia Baptista explains what – and who – is involved when the NHS sequences the DNA from all an individual’s 20,000 protein-coding genes

Gene duo hints at future cure for heart disease

A new study has identified an interaction between two genes that could cause cells in the heart to replicate, opening the door to the first possible curative treatment for heart disease

Analysing the epigenome: a new way to screen for cancer

Could the DNA in our bloodstream provide a way to detect cancer? Recent research looks at a novel approach to screening through a new type of blood test

Coronavirus and the human genome

A new nationwide study will sequence and analyse NHS patients’ genomes as part of the fight against the Covid-19 outbreak

Sepsis and the genome

Recent studies on sepsis show that genomics could hold the key to faster diagnosis and treatment, as well as understanding why it occurs

Non-coding RNA: another piece in the atherosclerosis puzzle

Why do some conditions affect us more as we age? A recent study looked at one in particular, atherosclerosis, and found that non-coding RNA may hold the answers

Colibactin and colorectal cancer

A newly published study could mark a major milestone in understanding the microbiome and the role in can play in disease development
Drawing a family history

10 things to consider when offering a genomic test

Guest author Professor Frances Flinter explains 10 of the most important considerations for professionals and patients