Understanding Down's syndrome phenotypes through innovative mouse genetics


  • Prof Elizabeth Fisher

    Department of Neurodegenerative Disease

  • Prof Victor Tybulewicz

    The Francis Crick Institute

Project summary

Professor Fisher and Dr Tybulewicz are building on previous Trust funding to extend their successful collaboration with a Joint Investigator Award. They plan to investigate the mechanisms involved in the translation of human chromosome 21 genes into the Down's syndrome phenotype. Down's syndrome is the most common form of intellectual disability, but the phenotype is highly variable and little is known about the mechanisms that determine which features are expressed. Professor Fisher and Dr Tybulewicz will use their award to concentrate on the cellular and molecular mechanisms underlying the cardiac development, learning and memory, and locomotor function deficits associated with the disorder.