Blog articles

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
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
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

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 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
Microscopic view of multiple chromosomes.

Sequencing the Y chromosome - five things we now know

After years of research, a fully annotated sequence of the human Y chromosome has been published. We celebrate this breakthrough with a few key facts

Children at centre of new genomics health research programme

New genomic bioresource D-CYPHR seeks to decode the DNA at the heart of childhood disease

Events

A starlit sky at night with a DNA double helix looming

Galactic Genomes: Exploring the Universe of Rare Diseases

A day of talks from leading rare disease researchers, patients and organisations, and featuring a research poster presentations. Lunch and refreshments provided.
People looking at items in glass cabinets

First, do no harm: Expert reflections on a rare bone disease

Medics4RareDiseases and FOP Friends, in collaboration with the Hunterian Museum at the Royal College of Surgeons of England, are hosting an evening reception on 13 February, for healthcare professionals

NHS Genomics Healthcare Summit

The 2024 NHS Genomics Healthcare Summit is taking place on Tuesday 12 December in London.

Genomics & Children’s Medicine: Everything You Need To Know

The South East Genomic Medicine Service are hosting a Genomics Autumn Festival.