Blog articles

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Stories of rare disease: Sara and Freya

In this fourth and final instalment of our rare disease blog series, we look at what happened when Sara received an unexpected diagnosis from her daughter Freya’s whole genome sequencing
An illustrated group of people, featureless and in multiple bright colours.

Stories of rare disease: Zainab

This third article in our series for Rare Disease Day 2023 tells the story of Zainab, who was diagnosed with a non-genomic rare condition at the age of 15
An illustrated group of people, featureless and in multiple bright colours.

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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Marvel star goes public on his APOE genetic link to Alzheimer's

Chris Hemsworth recently revealed his APOE4 status, which he discovered while filming a documentary on living better for longer

The Genomics Conversation: What matters to patients

The GEP recently met with patients and their relatives to talk about their experiences of genomic testing and the key insights they want healthcare professionals to know
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GEP fellow publishes research on patient experience

Lisa Ballard and her co-authors hope their findings about the consent process for genomic testing will inform the new NHS Genomic Medicine Service

News articles

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The #GenomicsConversation 2023 is coming

Is genomics hidden for you? Join us in June as we uncover the many ways genomics is shaping patient care
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Transforming healthcare: impact of genomics on the NHS

Our event gathered together representatives from across HEE and the NHS to discuss the challenges of educating the workforce in genomic medicine