Blog articles

Whole genome sequencing for diagnosis of infants

In the first of a two-part series about whole genome sequencing, we look at how this technology is being used to diagnose newborns in the NHS

What's in a little variation?

Genomic variation is the root of many of our traits, including what we look like and our susceptibility to many diseases. But what is it?
A strand of stylised blue DNA on a plain background with a magnifying glass focusing on a section of the DNA strand

How has whole genome sequencing transformed the investigation of rare disease?

The way in which rare diseases are investigated has been opened up by whole genome sequencing. We look at its impact on both clinicians and patients
illustrated image of two health professionals in conversation

Experts through experience: Becky’s story

Today, as part of our #GenomicsConversation week, we hear from Becky about her daughter’s complex condition, which remains undiagnosed even after genomic testing
Render of a DNA helix

Genomic sequencing: A decade to a day

Curiosity, patience, and the humble pea plant are three fundamental factors that have allowed us to sequence an entire human genome in 24 hours

The DDD study: Delivering diagnoses

Thousands of children have received results thanks to the DDD study – we look at some of the factors responsible for its success
A row of test tubes containing double helixes.

The 100,000 Genomes Project and the DDD study: A recap

We look at the background, aims and achievements of two of the most influential genomics studies of the last 15 years

News articles

Illustrated health professionals all looking for something

The #GenomicsConversation 2023 is here!

Join the National Genomics Education programme and colleagues across the health service as we shine a spotlight on how genomics is shaping patient treatment and care

Events

Great Ormond Street Learning Academy

Personalised Medicine for Paediatricians: The Essentials

A one day virtual course covering the essentials of personalised medicine in paediatrics.
An illustrated image of people of all ages going about their daily lives.

The Circle of Life - Niche to Necessity Webinar

Niche to Necessity: The Circle of Life webinar will explore genomics and its use within nursing, midwifery and health visiting practice
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Endocrine Genetic Testing

A new one-day training event, Endocrine Genetic Testing, is taking place on 12 September in Manchester.
A group of colleagues standing around a laptop

Association of Medical Educators (ASME)

Join us at the Developing a Diverse Workforce event to hear from Genomics Education Programme colleagues about their work on GeNotes and the Clinical Pathway Initiative.