Blog articles

From patient to advocate

Helen White tells us how her own diagnoses compelled her to carve a path in representing others

How hearing patient experiences levels up genomics training

Incorporating patient voices in genomics education can help healthcare professionals see the human impact of genomics. Here are some examples from our own work
Two illustrated health professionals in conversation

Experts through experience: Arti’s story

In today’s #GenomicsConversation blog post, we share Arti’s story of pursuing genomic testing and finding answers about her condition
Illustrated image of two health professionals in conversation

Experts through experience: Jo’s story

As part of this year’s #GenomicsConversation, patient advocate Jo shares her breast cancer journey, which began before the NHS Genomic Medicine Service was set up
Illustrated image of two health professionals in conversation

Experts through experience: Dave’s story

As part of this year’s #GenomicsConversation, we spoke to 100,000 Genomes Project participant Dave about his first-hand experiences of genomic testing in the NHS
illustrated image of two health professionals in conversation

Experts through experience: Becky’s story

Today, as part of our #GenomicsConversation week, we hear from Becky about her daughter’s complex condition, which remains undiagnosed even after genomic testing
An illustrated group of people, featureless and in multiple bright colours.

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

News articles

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The #GenomicsConversation 2024 is coming!

Join us this June as we chart how genomics is becoming part of routine NHS care and meet the people who are making it happen

Events

RAREfest24

Returning between Friday 22–Saturday 23 November 2024, RAREfest24 by the Cambridge Rare Disease Network is a free event for everyone of all ages
A starlit sky at night with a DNA double helix looming

Galactic Genomes: Exploring the Universe of Rare Diseases

A day of talks from leading rare disease researchers, patients and organisations, and featuring a research poster presentations. Lunch and refreshments provided.