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Developmental alterations in Down syndrome (DS)

Identification of molecular pathways altered by trisomy 21, leading to new insights into biology of Down syndrome (DS) is the long term research theme of  Professor Dean Nizetic and Dr Jurgen Groet. This team identified the deregulation of embryonic stem cell fate and a new concept explaining how this de-regulation could be responsible for the increased leukaemia risk in DS children .This team generated the first induced-pluripotency-stem-cells (iPSC) within the Blizard Institute, establishing a unique isogenic DS iPSC model.

Identifying molecular pathways altered by trisomy 21, leading to new insights into biology of Down syndrome (DS) is the long term research theme of Professor Dean Nizetic and Dr Jurgen Groet. This team identified the deregulation embryonic stem cell fate (Am J Hum Genet 2008, Mol Cell Proteomics 2009), and a new concept explaining how this de-regulation could be responsible for the increased leukaemia risk in DS children (Oncogene 2010). Work attracted media-attention including Press, live TV and Radio interviews, and support from the UK National DS Association (see http://news.bbc.co.uk/1/hi/health/7597761.stm). This team recently generated the first induced-pluripotency-stem-cells within the Blizard Institute, establishing a unique isogenic DS iPSC model. These cells are capable of differentiating in vitro to most tissue/cell types, allowing in vitro modelling of cellular phenotypes and discovery of chemical compounds capable of their correction. After co-coordinating a work package within the 12M€ EU-FP6- Integrated Project "AnEUploidy”, Professor Nizetic in 2011/12 got awarded 3 grants to model DS using iPSC: project grants from Kay Kendall Leukaemia Fund and the Jerome Lejeune Foundation, as well as a Strategic Funding Award from the Wellcome Trust as a part of a multi-disciplinary “LonDownS Consortium”, to tackle DS dementia and cognitive defect using iPSC modelling.

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