Research Awards
John Christodoulou, Ph.D.
Children's Hospital at Westmead, Sydney
STK9, a second RTT gene: genetic and functional studies
$50,000
Lay Progress Report (August 2005)
In collaboration with the group led by Professor Angus Clarke and Dr. Hayley Archer, screening of the CDLK5 gene continues in a number of patient groups including those with classical and atypical Rett Syndrome, individuals with intellectual disability, autism and seizures, and families with X-linked mental retardation where seizures (including infantile spasms) figure prominently. A number of sequence variations have been identified, whose pathological significance is currently being evaluated in more detail.
In addition, we are currently examining the sub-cellular localisation of the normal CDKL5 protein in a number of cell types. Once completed, we will then go on to examine the various mutations that have been identified to date, including whether the mutation leads to mis-localisation of the mutant CDKL5 protein, and how the mutation affects protein function.
These studies will yield further studies into the range of clinical presentations associated with CDKL5 mutations, and will help us to understand how these mutations exert their effects at the cellular level.
John Christodoulou, Ph.D.Children's Hospital at Westmead, Sydney
STK9, a second RTT gene: genetic and functional studies
$50,000
Lay Progress Report (August 2005)
In collaboration with the group led by Professor Angus Clarke and Dr. Hayley Archer, screening of the CDLK5 gene continues in a number of patient groups including those with classical and atypical Rett Syndrome, individuals with intellectual disability, autism and seizures, and families with X-linked mental retardation where seizures (including infantile spasms) figure prominently. A number of sequence variations have been identified, whose pathological significance is currently being evaluated in more detail.
In addition, we are currently examining the sub-cellular localisation of the normal CDKL5 protein in a number of cell types. Once completed, we will then go on to examine the various mutations that have been identified to date, including whether the mutation leads to mis-localisation of the mutant CDKL5 protein, and how the mutation affects protein function.
These studies will yield further studies into the range of clinical presentations associated with CDKL5 mutations, and will help us to understand how these mutations exert their effects at the cellular level.