Developing methods for the analysis of massively parallel sequencing data in family studies. This project will develop analytical methods to use the latest, high-throughput method of generating sequencing data, i.e. the letters of the human genome alphabet. These tools will be used to identify the causal mutations in families with inherited disorders, leading to diagnostic tests for these families.
Understanding the molecular mechanisms of intellectual disability. Intellectual disability is frequent in the population, with one in every fifty people in the world directly affected. This project will improve our understanding of the correct development and function of the brain required for cognition by investigating specific roles and regulation of key molecules involved.
Elucidating the molecular mechanisms underlying migraine and endometriosis via genetic dissection. The research aims to identify genetic variants underlying migraine and endometriosis susceptibility. Advances in the genetics of these common and painful disorders, including identification of genetic biomarkers (genetic variations that can predict disease susceptibility, disease outcome, or treatment response), will offer better rationales for scientific enquiry, helping the discovery of new treat ....Elucidating the molecular mechanisms underlying migraine and endometriosis via genetic dissection. The research aims to identify genetic variants underlying migraine and endometriosis susceptibility. Advances in the genetics of these common and painful disorders, including identification of genetic biomarkers (genetic variations that can predict disease susceptibility, disease outcome, or treatment response), will offer better rationales for scientific enquiry, helping the discovery of new treatment pathways and improve predictions of drug efficacy and safety. Thus providing improved treatment strategies for the individual sufferer and reduce the direct medical and indirect economic costs to individual sufferers as well as to the general community.Read moreRead less
Identification of genetic polymorphisms of synaptically expressed genes that contribute to variation in normal brain function. This project focuses on understanding brain functions. Brain and mind disorders are by far the largest contributors to the burden of disability, far exceeding any other disorder. This research will contribute to knowledge through addressing the national research priority promoting and maintaining good health. The research outcomes will form the scientific knowledge base ....Identification of genetic polymorphisms of synaptically expressed genes that contribute to variation in normal brain function. This project focuses on understanding brain functions. Brain and mind disorders are by far the largest contributors to the burden of disability, far exceeding any other disorder. This research will contribute to knowledge through addressing the national research priority promoting and maintaining good health. The research outcomes will form the scientific knowledge base essential for the translation of the project into public benefit through their application in development of new testing paradigms for a range of brain and mind disorders. Read moreRead less