Blog articles
All about mitochondria: Donation and developing treatments
In the second part of our mitochondria blog series, we look at mitochondrial donation, how it works and the impact it could have for families
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
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