AI can improve DNA analysis, eliminating need for additional test

Artificial intelligence (AI), when applied to exome sequencing data, may help to detect disease-causing copy number variants, say Cambridge-based researchers

New Lynch syndrome registry ‘game-changing’ for patients

England’s latest Lynch syndrome patient database may transform the disease’s detection and monitoring, becoming a blueprint for other genomic diseases
A computer manipulated photo of a hand holding a pair of self-locking medical tweezer scissors and DNA helixes. The tweezer scissors are removing a small red section that is on one of a DNA helixes.

Hereditary angioedema gene therapy hope

A CRISPR-based genome therapy has shown promising results for patients with a rare genetic swelling disorder
An illustration of a pair of lungs that are filled with various circles of different colour and size. Some smaller circles are floating outside of the lungs.

Metagenomic testing for diagnosis and surveillance – two birds, one stone

A new approach for faster diagnosis of respiratory infections could also help monitor potential outbreaks of bacterial or viral diseases
test tubes containing DNA helix

Sepsis – DNA fragments may offer a key to diagnosis

A new ‘bedside’ test that quantifies webs of DNA is now being trialled in the NHS to help identify potential sepsis
A row of test tubes full of neon pink liquid, each with a pipette dangling above it, drips of more pink liquid about to drop into them.

Whole genome sequencing – personalising cancer care

We explore how data from the 100,000 Genomes Project is still being used to great effect in cancer prevention and treatment
Conceptual illustration of neuron cells with glowing link knots in abstract dark space, high resolution 3D illustration

Clinical trials show promise for first ‘gene silencing’ treatment for Alzheimer’s disease

A new RNA-based therapy for Alzheimer’s disease that's in clinical trial phase could be the first of its kind to use ‘gene silencing’ for the condition

RNA in spotlight as RNA research pioneers to be awarded Nobel prize

Two RNA researchers whose work paved the way for Covid-19 RNA vaccines will be awarded the 2023 Nobel Prize

Polygenic risk scores and DTC testing: a problematic pairing?

We explore polygenic risk scores and why their application in at-home genomic testing has been brought into question
A graphic of an ear in isolation on a blue background. There are white and grey DNA strands going diagonally across the background

Gene therapy – a new approach for paediatric hearing loss

A new gene therapy is being trialled for children with a rare form of deafness caused by variants in the OTOF gene
A close-up view of a screen with multicoloured graph lines created from the sequencing of dna

The key principles behind newborn genome screening

The Generation Study will explore the benefits and challenges of sequencing the genomes of 100,000 newborn babies
A close-up photo of a baby's hand wrapped around an adult's thumb

Genomics England to launch the Generation Study

This winter sees the start of the Generation Study, which will explore the benefits and challenges of sequencing the genomes of 100,000 newborns