Hope for families facing a rare brain disease | Action Medical Research

Touching Lives - September 2016

Hope for families facing a rare brain disease

Action has awarded a Research Training Fellowship of £230,000 to Dr Apostolos Papandreou, of University College London (pictured). He is dedicated to helping children suffering from a devastating neurodegenerative disorder which eventually causes symptoms of dementia and Parkinson’s disease.

BPAN or, to use its full name, beta-propeller protein-associated neurodegeneration is a progressive and life-limiting disorder. Little is known about its underlying cause and there is currently no cure.

Babies and children with this rare brain disease tend to be slow to reach developmental milestones, like crawling walking and talking. They also often have epilepsy and sleep problems.

Sadly, their condition deteriorates as they get older and become teenagers and young adults. Eventually children lose skills they’ve previously acquired and they invariably need increasing levels of support in all aspects of everyday life.

“Having cared for children with this condition, I’m aware of the severe disability it causes, the poor understanding of the disease mechanisms involved and the lack of effective treatments,” explains Dr Papandreou.

“Parents I’ve met understandably feel devastated about their child’s condition. However, they’re also keen to explore new avenues and participate in research projects, hoping to find answers for their loved ones and for others, which I find truly inspiring.”

Dr Papandreou aims to improve understanding of the way brain cells malfunction in this disease and find drug treatments which could reduce or even reverse this.

“Drugs that show the most promise could then be tested further and put forward for future clinical trials, with the ultimate aim of developing treatments that improve the lives of both children with BPAN and their families,” he says.

As well as helping children with this specific condition, this research could have wider implications for the treatment of other neurological disorders, including other forms of neurodegenerative disease in children and Parkinson’s and Alzheimer’s disease in adults.

“It’s possible our findings will be helpful in the search for new ways to treat these conditions too,” he concludes.

Dr Papandreou is one of the latest recipients of our prestigious Research Training Fellowship grants. This scheme supports promising doctors and researchers early in their careers, developing their skills for the future.

We are proud that some of the leading children’s researchers today were once Action Research Training Fellows.

This project has been co-funded with the British Paediatric Neurology Association (BPNA).

 

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