Rare Diseases

Explore the practicalities of genomic testing in the NHS, when to consider genomics, and the patient pathway for rare disease. Build your knowledge of the genomic testing pathway for rare disease. The widescale availability of genomic sequencing in the NHS brings new possibilities for patients but means new concepts, [...]

Discover the role of research, clinical investigation and data sharing in diagnosing rare diseases. Learn about rare diseases diagnosis, genetic testing and diagnostic research. Around 30 million people in Europe are living with a rare genetic disease (a disease that affects less than 1 in 2,000 [...]