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TUT researchers received a grant from University of Pennsylvania Orphan Disease Center for research into a rare disease

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Pitt Hopkins Syndrome is a cognitive functional disorder (i.e. a form of mental retardation) caused by the mutation of one gene, the TCF4 gene, and diagnosed in less than 500 people in the world. This is caused by a so-called de novo genetic mutation – one that is non-hereditary. Since Pitt-Hopkins syndrome manifests itself at an early stage, there are better chances for its treatment due to the greater plasticity of children’s brains.  TCF4 gene has attracted wider interest mainly due to the fact that polymorphisms (variations creating predisposition to a disease) of the same gene have been linked to schizophrenia.

The Orphan Disease Center has been created to facilitate translational research and therapy development of certain orphan diseases that affect a marginalized population of individuals internationally. All the grants from the Orphan Disease Center are based on private donations.   “In Estonia, where few private donations are made in charity, it may be difficult to understand that money can be raised by private initiative even for such a rare disease,” says Tõnis Timmusk, TUT Professor of Molecular Biology. “We consider it a great honor that the University of Pennsylvania Orphan Disease Center has faith in the scientific activities of their group in the field of research into this rare disease.”

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