Blog articles

Step closer to mainstream precision medicine
Rare disease diagnoses made for two of the families involved in the 100,000 Genomes Project

Saving lives with genetics: newborn screening
While screening at birth targets very rare diseases, this early diagnosis can have huge benefits for the small number of affected babies

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

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

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