The Newborn Genomes Programme: early diagnosis of rare genetic diseases
There are estimated to be more than 7000 rare genetic diseases (RGDs), which are defined as affecting less than 1 in 2000 people in Europe, many of which are monogenic. Although rare individually, collectively they affect 1 in 50 individuals. Diagnosis of these diseases is often very difficult and patients can remain undiagnosed or diagnosis […]
