Alexion and BioMarin, both members of Genomics England’s Discovery Forum, have identified previously undiagnosed patients with life-threatening kidney and neurological diseases.
Diagnosing children likely to develop kidney failure
Nephronophthisis (NPHP) is a childhood genetic disorder primarily affecting the kidneys. It is rare (around 1 in 60,000 births) and usually results in kidney failure by the age of 15. It is responsible for 15% of cases of childhood end-stage renal failure – with no preventative treatments currently available.