Research in our laboratory focuses on dementia (Alzheimer's disease & frontotemporal dementia) and addiction (alcohol dependence). In each of these projects our goal is to understand the molecular basis of disease in order to identify novel targets for therapeutic development. We use genetic and genomic approaches to identify susceptibility alleles, this work includes genome wide association studies and whole genome/exome sequencing in families multiply affected by disease and in case control cohorts. We have also pioneered the use of endophenotypes to uncover both risk and protective alleles in both our Alzheimer's disease and our alcoholism studies. We have developed induced pluripotent stem cells from individuals with known genetic causes of disease in order to model the effects of these mutations in disease relevant cell types. Functional studies are being undertaken to understand the role of phospholipase D3 variants in Alzheimer's Disease risk, tau mutations in frontotemporal dementia and alpha 5 nicotinic receptor variants in addiction.
Cruchaga C, Goate AM, et al, Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature 2014; 505(7484): 550-4. PMCID PMC:4050701.
Karch CM, Cruchaga C, Goate AM. Alzheimer's Disease Genetics: From the Bench to the Clinic. Neuron. 2014 Jul 2;83(1):11-26. doi: 10.1016/j.neuron.2014.05.041. PMCID: PMC4120741, PMID: 24991952.
Karch CM, Goate AM. Alzheimer's Disease Risk Genes and Mechanisms of Disease Pathogenesis. Biol Psychiatry 2014 May 17 pii: S0006-3223(14)00339-4. doi: 10.1016/j.biopsych.2014.05.006. PMID: 24951455.
Wang JC, Kapoor M, Goate AM. The genetics of substance dependence. Annu Rev Genomics Hum Genet. 2012;13:241-61. doi: 10.1146/annurev-genom-090711-163844. Epub 2012 Jun 11. Review. PMID: 22703173 [PubMed - indexed for MEDLINE]
Alison Goate, D.Phil.
Genetic and genomic approaches to uncovering susceptibility to neurological and psychiatric disease.
Disease areas: Alzheimer's disease and Frontotemporal dementia, Alcohol Dependence