genetics

Researchers in Manchester have discovered a new genetic condition which offers answers to some children with…

The Down’s Syndrome Association (DSA), Unique and the Turner Syndrome Support Society (TSSS), have joined forces to…

Newborn babies to be offered whole genome sequencing for rare genetic conditions using blood samples which are…

DDX3X syndrome is a rare genetic disorder caused by changes in the DDX3X gene. While there are only 1,000 known…

The government has published a new action plan for England that aims to help those living with rare diseases…

The Spectrum 10K Study aims to look at biological and environmental factors linked to the wellbeing of autistic…