Neurodegenerative disorders

Impacts of our research

• We led a study that uncovered a new neurodegenerative disorder in which children had a normal or mild developmental delay before seizures in their first year, followed by severe and progressive developmental regression and severe epilepsy. They had delayed myelination which is important for enabling nerve cells to transmit information and complex brain processes. We found a gene variation was the cause and can now study underlying biology which we hope will translate to treatments.
  
  
• Our world-first study found a physically active and mentally stimulating lifestyle could delay Huntington’s disease by an average of four years in those at higher risk of developing it.
  
  
• We identified a group of families with an unknown syndrome in which affected children develop normally until an infection or fever triggers a fatal neurodegenerative disorder. We found mutations in the NAXD gene required for proper recycling of vitamin B3 lead to toxic versions of B3 accumulating in cells, interfering with normal functions. We plan to convert skin cells from these patients into nerve cells to better understand the disorder and provide avenues for therapies.
  
  
• Our team was the first to discover that a TRAPPC4 mutation located in a well-conserved splice site causes a neurological condition that is characterised by early-onset seizures, neurodevelopmental delay, microcephaly, spastic quadriplegia and progressive cortical and cerebral brain atrophy. The TRAPPC4 protein is required for regulating intracellular trafficking events and autophagy. We are testing new interventions for this disorder in our lab using stem cells. 

• We discovered five genes linked to neurodegenerative and other disorders. One is believed to underlie rare cases in which Parkinson's disease is inherited.