Searching for treatments for three rare neurodevelopmental disorders

Thousands of families across the UK are coping with the challenge of caring for children with rare and devastating diseases for which there are no cures. Together, these diseases severely affect many forgotten children, but the rarity of each individual disease can hinder efforts to develop treatments. Dr Heinz Jungbluth, of King’s College London, is searching for treatments for three rare diseases that are all linked to faults in an important quality control process within cells. Targeting processes like this, which are common to several different diseases rather than just one disease in isolation, offers hope to more children.

How are children’s lives affected now?

More than 5,000 rare diseases have been identified.¹ Although each disease is rare – affecting no more than one in 2,000 people – together they affect seven per cent of the UK population.¹ Many dramatically affect people’s lives.

“We’re studying three rare diseases that are classified as ‘early onset neurodevelopmental disorders’, which include some of the most devastating conditions known in humans,” says Dr Jungbluth. “Children with these conditions often have severe learning disabilities and may never be able to walk. Blindness, hearing loss and seizures are common complications. Sadly, there is no cure for most of these conditions and children’s life expectancy can be markedly reduced.”

“The understanding of the genetic changes that cause neurodevelopmental disorders has increased rapidly in recent years, but the development of new treatments has lagged frustratingly behind,” adds Dr Jungbluth “We urgently need new treatments.”

How could this research help?

“Our ultimate goal is to find treatments for three rare and incurable diseases that have all been linked to faults in a natural process called autophagy,” says Dr Jungbluth. “Autophagy helps nerves and other cells to develop normally and keep healthy. It can be thought of as cells eating parts of themselves that are faulty or unnecessary'.

“We’re generating models of the diseases using fruit flies, whose cellular quality control processes are similar to those of humans, so we can better understand what goes wrong and, more importantly, test a range of gene therapies and drugs to find out whether they are possible treatments,” continues Dr Jungbluth. “Treatments that show promise are then being tested in human cells.”

“Our work could help in the development of new treatments for a wide range of disorders that are linked to defective autophagy – both rare diseases like the ones we’re studying and more common problems such as epilepsy, dementia and cerebral palsy,” adds Dr Jungbluth.

References

1. National Institute for Health Research. Rare Diseases Translational Research Collaboration (TRC). http://www.nihr.ac.uk/about/rare-diseases-translational-research-collaboration.htm Website accessed 28 February 2016.