A recent study by Samantha Malka and colleagues used data from the 100,000 Genomes Project to find genetic causes of a rare eye condition in South Asian and African communities.
Recent research has discovered a common cause for neurodevelopmental disorders in the non-coding genome, providing a diagnosis to hundreds of people around the world and potentially thousands more.
A genetic diagnosis can impact physical health and treatment, however it can also impacts mental health and emotions. This blog revisits a podcast we recorded for Mental Health Awareness Week.
Genomics 101 goes back to basics to explore some important topics in genomics. This blog explains what we mean by 'rare conditions', how they are caused, and what we can do to treat them.