Blog articles

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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
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Motor neurone disease: Could gene therapies be the answer?

New clinical studies hope to use genomics to improve treatment of and even find a cure for motor neurone disease
Bloodstream

Haemophilia: Have we found a cure?

A new gene therapy for treating this rare condition has shown success at clinical trial

PPP rare diseases report: Five things we learned

We round up the key genomics points from the latest Public Policy Projects report

News articles

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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
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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
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Festival of Genomics 2023

The Festival of Genomics London is the UK’s largest genomics event where people from all corners of the genomics industry meet to learn and share expertise.