Within the Neurological Disorders Center, Researchers are investigating the genetic and genomic background underpinning a number of neurological diseases, focusing particularly on autism spectrum disorder, intellectual disability, Parkinsons' disease, Alzheimers disease, epilepsy and monogenic conditions, such as fragile X syndrome. It is expected that identifying the causative mutations will feed into other related areas of research, enabling development of novel therpies, putative biomarkers and a greater understanding of the mechanisms leading to such conditions.
By bringing together a range of methodologies, including whole genome sequencing, transcriptomics, epigenetics and functional studies, researchers are able to identify both known and novel causative mutations and determine the roles of affected proteins in the development of these conditions.
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