Fighting a devastating rare disease | Action Medical Research

Touching Lives - September 2018

Fighting a devastating rare disease

Mitochondrial DNA depletion syndromes are rare genetic disorders. In its most severe form, the condition starts in early infancy and has devastating effects on the liver and brain. Supported by a Research Training Fellowship from Action, Dr Nandaki Keshavan (pictured) aims to develop the first gene therapy treatment.

Mitochondria are the powerhouses of the body’s cells, performing the essential job of generating energy. If certain genes that are involved in making the mitochondria’s own DNA are faulty, it affects the energy supply. This can have disastrous consequences for organs that need lots of energy, like the brain and the liver.

Around one in five children with Mitochondrial DNA depletion syndrome have a severe type that is caused by faults in a gene called DGUOK. They experience progressive liver disease and neurological symptoms, including seizures and developmental delay.

“A liver transplant can help save some children from liver failure but unfortunately, it does not improve or prevent their brain disease,” explains Dr Keshavan.

“Sadly, there is no cure and most children will ultimately lose their lives – often at a very young age. There is an urgent need to find effective new treatments, which would give hope to children and their families who are affected by this heartbreaking condition,” says Dr Keshavan.

Dr Keshavan is leading a team based at UCL Great Ormond Street Institute of Child Health in London and aims to use gene therapy to correct the faulty gene.

“The use of gene therapies to treat other rare disorders is showing promise but this approach has not yet been used for treating DGUOK deficiency,” he says.

“We hope that gene therapy will slow down or stop the progression of the disease, laying the foundations for future clinical trials in patients.”

Although this research is still at an early stage, it provides hope for a future new treatment that would transform the lives of children with this condition. And if the approach works, the researchers hope to develop similar treatments for children with other forms of this syndrome, and for other mitochondrial disorders, helping more children.

Our Research Training Fellowship scheme has been running for 45 years. It supports the most promising doctors and researchers early in their careers, training and developing future leaders in children’s research.

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