UCL Institute of Child Health

The world’s first research centre dedicated to understanding how and why arthritis affects teenagers has opened in the UK.

A team of scientists led by Professor Francesco Muntoni of the UCL Institute of Child Health has won an EU grant to develop and test a novel drug treatment for boys with Duchenne muscular dystrophy (DMD). The clinical safety trial, which is not expected to start before autumn 2014, aims to recruit 12 boys – four from the UK – who have a particular genetic defect which the drug will target. The first stage of the trial will focus on identifying the best drug formula to 'skip’ the area on the affected gene known as ‘exon 53’.

A centre bringing together the country’s leading clinicians and researchers to find effective treatments for children’s rare diseases has received a £10 million funding boost.

International researchers, including a team at Great Ormond Street Hospital and the UCL Institute of Child Health, have discovered a new cause for thyroid hormone deficiency, or hypothyroidism. This common endocrine disorder is typically caused by problems of the thyroid gland, and more rarely, by defects in the brain or the pituitary gland (hypophysis). However, a new cause of the disease has been discovered from an unsuspected source and is reported in the journal Nature Genetics.