Professor Muntoni
Scientists at the UCL Institute of Child Health are trialling innovative therapies for muscular dystrophies, thanks in part to Jeans for Genes.
The ICH is a large research institution associated with Great Ormond Street Hospital for Children in London.
It receives funding from Jeans for Genes every year through the hospital's charity.
One key project currently being funded is the Dubowitz Neuromuscular Centre.
The team there is lead by Professor Francesco Muntoni.
He pioneered the identification of the genes responsible for neuromuscular conditions such as Limb Girdle and Congenital Muscular Dystrophies.
These are progressive conditions which largely affect the muscles around a child’s hips and shoulders, and congenital myopathies which cause static weakness of the muscles in the limbs and torso.
In many of these conditions, a faulty gene causes a child’s muscles to degenerate, leading to paralysis and a shortened life span.
Now that the team has identified the genes for a number of these disorders, clinical trials of innovative genetic therapies are underway.
These therapies could be applied to a variety of disorders in the future which is what makes Professor Muntoni’s work so exciting.