genetic disorder

Lucas, 13, from Stoke-on-Trent, is one of only dozens of children in the world with the CNKSR2 genetic disorder, he has regular seizures and needs around the clock care.

Over the years he has observed lots of severe genetic disorders.

The mum of a five-year-old girl with a terminal genetic disorder has said her daughter's health is likely to deteriorate quickly if the NHS removes provision of the vital drug which is "keeping her doing".

Grayson is blind, the result of a rare genetic disorder that stunts the development of the iris and the crystalline lens covering the eye.

The 33-year-old was diagnosed with Turner syndrome in 2023, a genetic disorder that had unknowingly caused her to go through early menopause in her teenage years and subsequently led to her infertility.