Sir Adrian Bird, Buchanan Professor of Genetics based at the Wellcome Centre for Cell Biology and member of the Simons Initiative for the Developing Brain, has been awarded the world’s most prestigious neuroscience prize for his work to understand a rare neurological disorder. Image Each year, The Brain Prize is awarded to one or more brain researchers who have had a ground-breaking impact on brain research. Established in 2010, the Brain Prize is awarded by Denmark's largest private funder of neuroscience research, the Lundbeck Foundation. In only a few years the Prize has become known as the most distinguished neuroscience prize in the world. Prize winners are awarded DKK 10 million – approximately €1 million Professor Bird has been announced as joint winner in recognition for his outstanding contribution to research on Rett Syndrome. He shares the prize with fellow scientist Professor Huda Zoghbi for their work on the disease. Huda Zoghbi is a professor of genetics at Baylor College of Medicine and Texas Children's Hospital in Houston, US. Rett syndrome is a genetic disorder that affects brain development, resulting in severe mental and physical disability in children who often require lifelong 24-hour care. The debilitating autism spectrum disorder is estimated to affect about 1 in 12,000 girls, but is extremely rare in boys. What causes Rett Syndrome? Most cases of Rett syndrome are caused by a mutation in a gene, known as MECP2, which is found on the X chromosome. The gene contains instructions to produce MECP2 protein needed for healthy brain development. Mutations in this gene prevent the brain’s nerve cells from working correctly. In over 99% of cases there is no family history of the disease. MECP2 was discovered in 1992 by Professor Bird, and later shown by Professor Zoghbi to be the cause of the condition. Reversing Rett Syndrome In 2007 Adrian Bird’s group published a landmark paper in the journal Science describing that Rett syndrome could be reversed in laboratory mice. The team achieved this by switching on a functional MECP2 gene in animals that previously lacked it. Remarkably, this eliminated symptoms of the disease, even at advanced stages. The finding suggests that Rett Syndrome in humans will be curable and has stimulated an international search for therapies. It also raised the tantalising possibility that other profound neurological disorders might be curable. From Molecules to Animal Models Adrian Bird’s research focuses on epigenetics – the study of how the information stored in our genes is expressed and the mechanisms that control this. He uses a broad range of technologies to answer questions about the role of epigenetics in health and disease, in particular, Rett Syndrome. His group studies animal models of this autism spectrum disorder to better understand the origin and potential reversal of this condition. At the molecular level, they use biochemistry and genetics to reveal how epigenetic signals, in particular DNA methylation, are read to control the way genes are switched on and off in the brain. This breadth – from molecules to whole organisms – allows his team to see biomedical issues at more than one level, keeping their research at the forefront. Career Adrian Bird has spent much of his academic career at the University of Edinburgh’s School of Biological Sciences. He received his PhD in 1970 and later returned to work at the MRC Mammalian Genome Unit in 1975. In 1990, Adrian Bird became Buchanan Professor of Genetics. He helped create the Wellcome Centre for Cell Biology, and served as its director from 1999 until 2011. He was a Governor of Wellcome, the world’s largest medical research charity, from 2000 to 2010. Adrian was also a trustee of Cancer Research UK and is currently on the board of the Rett Syndrome Research Trust. I am truly honoured to be awarded the Brain Prize. I have been fortunate to work with outstanding people over the years, and this recognition from the Lundbeck Foundation is also a credit to them. Like so many discoveries that have turned out to be biomedically important, the work we began in the 1990s started out as blue-skies research with no obvious practical benefit. I am grateful for all the generous support I’ve received from the University, the Wellcome Trust and the Rett Syndrome Research Trust since those early days. Professor Sir Adrian Bird, CBE FRS FRSE FMedSciBuchanan Professor of Genetics at the University of Edinburgh Awards and Honours Buchanan Medal of the Royal Society, 2018 Charles Rudolphe Brupbacher Prize for Cancer Research, Zurich, 2017 Foreign associate of the National Academy of Sciences, USA, 2016 Shaw Prize, Hong Kong, 2016 (together with Huda Y. Zoghbi) Knighted in the New Year Honours for services to science, 2014 BBVA Foundation Frontiers of Knowledge Award in Biomedicine, Spain, 2013 GlaxoSmithKline Prize, Royal Society, 2012 Gairdner Foundation International Award, Canada, 2011 Fellow of the Academy of Medical Sciences (FMedSci), 2001 Fellow of the Royal Society (FRS), 1989 Louis-Jeantet Prize for Medicine, Switzerland, 1989 The Brain Prize The Brain Prize recognizes highly original and influential advances in research on the nervous system, covering all aspects from fundamental studies to research related to understanding and treatment of diseases of the brain and other parts of the nervous system. All candidates are nominated by their colleagues. An international selection committee recommends its choice to Lundbeckfonden’s board of directors, which then makes the final decision. His Royal Highness Crown Prince Frederik of Denmark will present the winners with the prize on 13 September in a ceremony at the Royal Danish Playhouse, Copenhagen. Related Links Adrian Bird’s Laboratory Wellcome Centre for Cell Biology Lundbeck Foundation Publication date 29 Apr, 2020