One was Cockayne syndrome, a rare disorder characterised by an abnormally small head size, and a failure to gain weight and grow at the expected rate. The signs and symptoms of the condition are ...

THE mother of an inspirational Wirral woman who died from a rare disorder has been awarded the British Empire Medal (BEM) for services to children with DNA repair disorders in the King’s New ...

When Sophia was a baby, she was constantly sick, and was eventually diagnosed with Cockayne Syndrome, a premature aging disorder. Today, following the heartbreaking diagnosis, the 12-year-old ...

When Sophia was a baby, she was constantly sick, and was eventually diagnosed with Cockayne Syndrome, a premature aging disorder. Today, following the heartbreaking diagnosis, the 12-year-old ...

FIVE RESIDENTS of Flintshire have been recognised in HM The King's New Year Honours List for 2025. They are among the 58 people from Wales who are receiving honours according to the list ...

Five of the conditions (xeroderma pigmentosum, Cockayne's syndrome, trichothiodystrophy, Down syndrome, and triple-A syndrome) display a defect in the nucleotide excision repair pathway ...

"Those people have experienced things like forced labour, debt, bondage, deceptive recruiting, in some cases servitude, or even in the cases of some women sexual servitude," Dr Cockayne said.

Genetic counselling is an educational process that aims to inform and advise patients and relatives at risk of a genetic condition about the nature of the disorder, the probability of developing ...

Nucleic acid unwinding is an essential step in many biomolecular processes. Researchers in this field recently met to examine progress and outstanding issues. Helicases are molecular motors that ...

What is Cushing's syndrome? Cushing's syndrome is a hormonal disorder. It’s caused when you have high levels of the hormone cortisol over a long time. Cushing's syndrome is fairly rare. It most often ...