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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Cambridge has played a central role in the story of genomics: from uncovering the structure of DNA through to inventing a super-fast way of reading the genetic code. Today, researchers are using genomic information to make more accurate diagnoses, enable personalised medicine, tackle threats like COVID-19, and even reconstruct the ancient history of humans.