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We are investigating the molecular mechanisms which explain how the presence of 3 copies of chromosome 21 produces specific defects in fetal haematopoietic stem/progenitor cells and, ultimately, how this contributes to leukaemogenesis in children with Down syndrome.

Paediatric haematology research group

Irene Roberts joined the Department of Paediatrics as Professor of Paediatric Haematology in October 2013. She was previously Professor of Paediatric Haematology at Imperial College London where she was an Honorary Consultant Paediatric Haematologist at St Mary's and Hammersmith Hospitals. Professor Roberts has longstanding interests in developmental haematology with clinical interests in neonatal haematology and genetic haematological diseases in children. 

In the last 10 years Professor Roberts' group has specifically focused on the cellular and molecular basis for trisomy 21-mediated perturbation of fetal haematopoiesis and the impact of trisomy 21 on leukaemia initiation. Through immunophenotypic, functional and gene expression studies on isolated primary haematopoietic stem/progenitor cells we have shown that trisomy 21 itself causes abnormal development of haematopoietic progenitors and, more recently, that trisomy 21 interferes with haematopoietic stem cell function, causing a marked megakaryocyte/erythroid bias and profound impairment of B lymphocyte development. We now want to identify the molecular mechanisms which explain how the presence of 3 copies of chromosome 21 produces specific defects in fetal haematopoietic stem/progenitor cells and, ultimately, how this contributes to leukaemogenesis in children with Down syndrome. 

Team members

Related research themes