A University of Edinburgh academic is one of two winners of a prestigious international brain research prize for their work mapping a rare neurological disorder that affects babies.

The two neuroscientists have provided a unique insight into Rett syndrome – a rare neurological disorder that primarily affects girls during their early childhood.

Research by Professor Huda Zoghbi and Sir Adrian Bird of the University of Edinburgh overturned previous understandings of Rett syndrome and indicated neurological development disorders like this one are not necessarily irreversible.

Rett syndrome is extremely rare and caused by a mutation of a particular gene. The disorder results, to varying degrees, in mental and physical disability.

During the first years of their lives, children seem to develop normally but once they reach the age of one to two, their development stagnates.

Among other things, they begin to show signs of autism and to make involuntary movements with their hands.

The condition eventually stabilises and the child can then slowly begin to develop but will remain developmentally disabled for the rest of its life.

Patients also often have trouble breathing and sleeping and may suffer from epilepsy and scoliosis. Around 50% of sufferers are unable to walk.

Professor Sir Bird and Professor Zoghbi’s ground-breaking research has brought researchers closer to developing a treatment than ever before, earning them what is regarded as the world’s most prestigious award for brain research, the Lundbesk Foundation Brain Prize.

Sir Adrian Bird is a professor of genetics at Edinburgh University, where he has spent most of his career. He is described as a pioneer of epigenetics, and designed the first mouse model of Rett syndrome.

Professor Zoghbi is a Lebanese-born American professor of genetics at Baylor College of Medicine and Texas Children's Hospital in Houston, who among other things, identified the gene that causes Rett syndrome.

Professor Richard Morris, chair of the prize’s Selection Committee, said:

“The Brain Prize 2020 is awarded for their fundamental and pioneering work on Rett syndrome. Their work established the importance of epigenetic regulation in both brain development and the maintenance of normal adult brain function.

“It also points to novel opportunities for treatment of this and other neurodevelopmental disorders.”

Jan Egebjerg, director of Research at the Lundbeck Foundation, which is celebrating ten years of the Brain Prize, stresses the significance of this new breakthrough in the field of brain research:

“The brain is incredibly complex and, therefore, a great many of its basic mechanisms – for instance, when it comes to disease – are still uncharted territory. Brain disorders are a huge burden – to the individual and society alike.

“So, it’s vital that we give a boost to brain research. Above all, this means giving research more money. But it’s also important that we honour the researchers who often dedicate their entire careers to uncovering new territory and to delivering the greatest advances in brain research.”

 

 

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