Rare Diseases

Common and rare variation both contribute to the onset of retinal disease

World of Genomics: England

28 February 2023

World of Genomics: Wales

13 December 2022

Healthy newborns offered whole genome sequencing to screen treatable rare genetic disorders

14 November 2022

Genomics week in brief: Week ending 12th November

6 September 2022

A Spotlight On: Rare Disease – Marshall Summar, Director of the Rare Disease Institute at the Children’s National Hospital

Genomics study uses UK Biobank Data to reveal new genetic associations for rare diseases

Non-canonical Variants: The Dark Horse of Rare Genetic Diseases

Mutations causing infertility in Tonne-Kalscheuer syndrome identified with CRISPR

A Spotlight On: Variants of uncertain significance – Kimberly Gilmour