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US rat studies set new hope for rare brain disease

Updated: 5 days ago


Brain organoid transplant

Research at Stanford University, California, is making progress to understand a rare genetic brain disease and develop potential treatments.


Timothy syndrome is marked by severe developmental issues that lead to various neurological conditions in newborns, such as autism and epilepsy, but also an early risk of heart failure, often leading to deaths in infancy.


The research – led by Sergiu Pasca for 13 years – has now developed a new technology where transplantation of modified brain organoids from human stem cells, can genetically reverse the defects of Timothy syndrome at a molecular level.


The approach, published in Nature Communications, was successfully used in cell cultures and in transplantation to rat brains.


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