Blog articles

All about mitochondria: Definition and disease

In the first of two blog posts about mitochondria, we explore what they are and how they can cause health conditions
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
The underside of a newborn baby's feet, showing the heels.

New genetic condition to be included in UK newborn screening

The rare condition tyrosinaemia type 1 may soon be included in national newborn blood spot screening
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Stories of rare disease: Melanie and Saskia

In the second article in our series, we share the story of Melanie’s long journey to finding a genomic diagnosis for her daughter Saskia
An illustrated group of people, featureless and in multiple bright colours.

Stories of rare disease: Aisha

To kick off our blog series for Rare Disease Day 2023, we share Aisha’s story of living with Morquio syndrome and look at the impact that healthcare workers can have on a patient’s journey
A large illustrated group of featureless people in bright colours.

Stories of rare disease: Introducing our new blog series

In honour of Rare Disease Day 2023, this week we’ll be sharing patients’ stories of living with rare disease and the role genomics has played in their journeys

News articles

Genomic testing for rare disease: Learn with the experts

Join a new cohort of learners supported by expert clinicians on the latest mentored run of the National Genomics Education programme’s popular course
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Popular funded genomics course returns

Healthcare professionals keen to learn about genomics can apply for a funded place on this popular course delivered by the University of the West of England
An illustrated image of a magnifying glass looking at a strand of DNA

Rare Disease Day 2023

The Genomics Education Programme is playing a key role in the education of NHS staff in rare disease, a priority area in the UK Rare Diseases Framework

Genomics in the NHS: A clinician’s guide to genomic testing for rare disease

Join our new two-week online course for a practical guide to the genomic testing process for rare disease


LinkAGE Webinar 3: Spinal muscular atrophy

Welcome to the third of our new series of expert webinars. In this webinar Dr Louise Hartley will discuss gene-targeted therapy to SMA