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

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

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

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

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

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

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

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
Events

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