Scientists Who Discovered MECP2 Link with Rett Syndrome Awarded 2020 Brain Prize

Scientists Who Discovered MECP2 Link with Rett Syndrome Awarded 2020 Brain Prize

The scientists who discovered the MECP2 gene and its role in Rett syndrome have been awarded the 2020 Brain Prize, the world’s largest neuroscience prize granted by the Lundbeck Foundation.

Sir Adrian Bird, PhD, a professor of genetics at The Edinburgh University School of Biological Sciences and Huda Zoghbi, MD, professor of genetics at Baylor College of Medicine and director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital will share the 10 million Danish krone (more than $1.4 million).

While Bird’s team initially discovered and characterized the MECP protein in 1992, Zoghbi and her collaborators were the first to identify mutations in the MECP2 gene as a cause for Rett syndrome and showed how it affects brain function, in 1999.

“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,” Bird said in a press release.

“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,” he said.

Since their initial discoveries, the scientists have been involved in research suggesting that some Rett symptoms may be reversible.

“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,” Bird said.

The Brain Prize has been awarded for 10 years by the Lundbeck Foundation, Denmark’s largest private funder of neuroscience research. According to the foundation, Bird and Zoghbi established the importance of epigenetic regulation in brain development and in maintaining normal adult brain function. Also, their work sheds light on possible treatment strategies for Rett other neurodevelopmental disorders.

Every year, the foundation grants the international prize to one or more scientists who have had a ground-breaking impact on brain research. A total of 34 researchers have received the Brain Prize since its creation.

A video with the 2020 prize announcement, which was held online with no audience due to the social distancing imposed by the COVID-19 pandemic, is available here

His Royal Highness Crown Prince Frederik of Denmark will present the winners with the prize on Sept. 13, in a ceremony at the Royal Danish Playhouse in Copenhagen.

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José holds a PhD in Neuroscience from Universidade of Porto, in Portugal. He has also studied Biochemistry at Universidade do Porto and was a postdoctoral associate at Weill Cornell Medicine, in New York, and at The University of Western Ontario in London, Ontario, Canada. His work has ranged from the association of central cardiovascular and pain control to the neurobiological basis of hypertension, and the molecular pathways driving Alzheimer’s disease.

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