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