Led by Professor Jozef Gecz (School of Paediatrics and Reproductive Health)
Neurological disorders are diseases of the nervous system which result in disabilities or functional limitations. In childhood, neurological disorders are common - with intellectual disability, epilepsy and cerebral palsy affecting up to 3-4% of children. The genetics of these brain disorders are extremely complex. To date we know of at least 600 intellectual disability genes and 300 epilepsy genes. A handful of cerebral palsy genes have also been identified and there are likely many more. Finding the causative gene and the genetic mutation responsible for these disorders is therefore a major challenge.
The Neurogenetics Group aims to understand the neurobiology of human brain function by studying major neurological disorders which are genetically determined. By identifying and characterising the mutations implicated in intellectual disability, epilepsy and cerebral palsy, a greater understanding of the role of specific genes and proteins in normal brain function can be discovered.
Jozef's group discovered, or made major contributions to, the discovery of several novel genes causing epilepsy (DEPDC5), intellectual disability (USP9X and ZC4H2) and cerebral palsy (NKX2.1 and ZC4H2). Jozef and colleagues also revealed the crucial role for the non-sense mediated mRNA decay (NMD) pathway in neuronal cell (in particular neuronal stem cell) function, as well as implicating five other NMD genes in neurodevelopmental disorders. These genes include UPF2, UPF3A, SMG6, EIF4A3 and RNPS1. Significant progress was also made to better understand disorders through genes identified in previous years, including GOSR2 for myoclonic epilepsy (North Sea Epilepsy), TBC1D24 for intellectual disability and epilepsy, as well as CCDC22 and ARX for intellectual disability.