Rare disease genomic testing: promoting timely and equitable access
A Position Statement has been published to describe best practice for ensuring consistent delivery of genomic testing for rare diseases...
CEO of Unique
Dr Sarah Wynn is the CEO of Unique, an organisation that provides support, information and a voice for all those affected by rare chromosome or gene disorders. Unique has over 30,000 family members worldwide and has published over 300 information guides on rare genetic conditions.
by Dr Sarah Wynn and 3 others
A Position Statement has been published to describe best practice for ensuring consistent delivery of genomic testing for rare diseases...
The 100,000 Genomes Project aims to sequence 100,000 genomes by 2017. A proportion of these genomes will be from patients who have an undiagnosed rare disease. This project has the potential to make a dramatic impact on the numbers of people receiving a much-needed diagnosis for themselves or their child...
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