There are more than 6,000 rare diseases, and this number is steadily increasing because genetic research is beginning to explain disease patterns that we did not understand before.

While genomics alone may not generate a diagnosis or wide-scale treatment, it may help us better understand psychiatric disorders

brain mental health

A major US study has shown that non-invasive prenatal testing performs better than invasive methods, but what about the UK?

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As the first patients are set to be recruited to the main study this month: what are the truths and myths about this Project?

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Rare disease diagnoses made for two of the families involved in the 100,000 Genomes Project

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While screening at birth targets very rare diseases, this early diagnosis can have huge benefits for the small number of affected babies

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Films chart the diagnostic odyssey of a patient with rare disease and their family, and the hope offered by genomic medicine

Two short films launched this week by HEE highlight the real need of patients with rare diseases for genomics to make a difference

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Updated: The UK has approved new techniques to fix problems in mitochondrial DNA. Here's how 'three-person IVF' will work

Mitochondria

Advances in both genomic and digital technologies bring both opportunities and challenges for the health sector

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