Assistant Professor of Neurology
6140 MRB III
Hedera’s research is focused on identification of novel genes causing epilepsy (including those syndromes associated with intellectual disability) and the elucidation of pathogenesis as a result of mutations in these genes. Previously he identified a novel locus for XMRE syndrome (X-linked intellectual disability and epilepsy), which was later shown to be caused by mutations in the renine receptor. Recently, he has discovered another locus for generalized epilepsy and intellectual disability, and he is screening for causative genes. Another aspect of his research is focused on molecular elucidation of hereditary spastic paraplegia (HSP) using C. elegans model organism and in vitro neuronal cultures. HSP frequently starts in infancy and may be associated with learning disabilities and mental retardation. Furthermore, recent data, including his own data, also suggest that genes causing HSP also play important roles in brain development. Elucidation of these mechanisms will greatly enhance understanding of axonal degeneration in motor paralysis and also their role in neuronal plasticity and axonal development.