Topic description and stories

Woman inhaling from a mask nebulizer

Rare disease research at Cambridge receives major boost with launch of two new centres

23 Apr 2024

Cambridge researchers will play key roles in two new centres dedicated to developing improved tests, treatments and potentially cures for thousands...

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Union Flag and EU Flag

No deal Brexit could have detrimental impact for four million people in UK living with a rare disease

11 Dec 2020

Experts have warned that a ‘no deal’ Brexit will result in the exclusion of the UK from the 24 European Reference Networks (ERNs) that were...

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DNA Double Helix

Genomes front and centre of rare disease diagnosis

24 Jun 2020

Cambridge-led study discovers new genetic causes of rare diseases, potentially leading to improved diagnosis and better patient care.

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Snip, snip, cure: correcting defects in the genetic blueprint

14 Jul 2017

Gene editing using ‘molecular scissors’ that snip out and replace faulty DNA could provide an almost unimaginable future for some patients: a...

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Human Genome mannequin

Algorithm matches genetic variation to disease symptoms and could improve diagnosis of rare diseases

19 Apr 2017

A faster and more accurate method of identifying which of an individual’s genes are associated with particular symptoms has been developed by a team...

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DNA/protein function finder from the Wellcome Trust, Sanger Institute, emblebi and YourGenome

The Big Dating Game

09 Jun 2015

When is a rare disease not a rare disease? The answer: when big data gets involved. An ambitious new research project aims to show patients that they...

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An overview of the structure of DNA

New initiative will sequence 10,000 whole genomes of people with rare genetic diseases

21 Oct 2013

Project will lay foundation for genomic medicine.

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