Grant from Pitt-Hopkins research foundation
TUT scientists from the Department of Gene Technology were one of the six who received, alongside with researchers of world-famous universities, a one-year grant from a US private foundation, the Pitt Hopkins Research Foundation.
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.
“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 Researcher-Professor of Gene Technology.
Principal investigator of the $ 50,000 grant titled “Signalling pathways and compounds regulating transcriptional activity and phosphorylation of TCF4 protein in neurons” is professor Timmusk, co-investigator is research scientist Mari Sepp. They attracted the Foundation’s attention with their research article published in 2012 in the leading journal of human genetics “Human Molecular Genetics”. “Thanks to this article we were invited by the Pitt Hopkins Research Foundation to apply for research funding, “says Tõnis Timmusk.
However, an invitation to apply does not mean that funds will be allocated. There are quite many private foundations especially in the USA, but it is not very likely that one receives funding, since the foundations are usually rather careful when allocating money. “The ones that have received funding earlier are more likely to receive funding also in future,” describes Timmusk. “If everything goes well and the results are promising, of course.”
Timmusk’s application was approved only on the second attempt and even in this time by a subsequent decision. Besides the fact that the applicant was new, the origin was an additional obstacle. “Private foundations do not want to allocate money out of the USA”, explains Timmusk. “First, a foreign tax system in itself raises questions. Therefore I highly appreciate receiving this grant. I consider it a great honour that the Pitt Hopkins Research Foundation has faith in the scientific activities of our group in the field of research into this rare disease”.
Indeed, all the rest of the grant recipients are from the USA, from world-famous universities such as Harvard Medical School, Massachusetts Institute of Technology, University of North Carolina at Chapel Hill, etc.