Genetic conditions Newborn screening for 200 rare genetic conditions begins Alison Bloomer Oct 3, 2024 Newborn babies to be offered whole genome sequencing for rare genetic conditions using blood samples which are…
Genetic conditions Understanding DDX3X syndrome: a rare genetic disorder Lauren Nicolle Aug 12, 2024 DDX3X syndrome is a rare genetic disorder caused by changes in the DDX3X gene. While there are only 1,000 known…
Genetic conditions New government action plan for people with rare diseases Alison Bloomer Feb 28, 2023 The government has published a new action plan for England that aims to help those living with rare diseases…
Autism Spectrum 10K study: an #ActuallyAutistic response Mette Sep 1, 2021 The Spectrum 10K Study aims to look at biological and environmental factors linked to the wellbeing of autistic…