As we already mentioned, Timothy syndrome is rare, very rare! In fact there are only twenty people in the world known to have this form of disability and those who have the syndrome find it difficult to communicate and interact with others.
The condition stems from just one single gene in the body, which made things a little easier for the researchers at Stanford University who undertook a study to give a better understanding of how autism originated.
The researchers transformed skin cells from those who have Timothy syndrome into fully-fledged cells called neurons. By comparing the cells against those from a healthy person the team concluded that the healthy neurons developed into subtypes which were able to function around the whole brain where the neurons from those with Timothy syndrome is were less functional in the lower part of the brain as well as producing an unhealthy amount of the chemical which is linked to norepinephrine and dopamine.
As norepinephrine and dopamine are strongly linked to how we communicate with others and our social behaviour this gave the team evidence that the cause of autism is related to how different parts of the brain communicate with each other.
The findings could lead to a drug which can restore damaged cells, in theory this is possible now as the person who led the study, Dr Richardo Dolmetsch has told the press the team have managed to reduce the amount of malfunctioning neurons with a drug, but due to severe side-effects the treatment isn’t suitable for children at this stage.
