Almasy’s research examines the roles that genes play in complex conditions like heart disease and neurological and psychiatric conditions. With grants from the National Institutes of Health, her group is examining genetic influences on cardiovascular disease, thrombosis, and schizophrenia. She also collaborates on studies seeking to localize genes influencing normal variation in brain structure and function, alcoholism and other types of addiction.
Many of her studies focus on quantitative risk factors related to psychiatric disorders. In collaboration with colleagues at the University of Pennsylvania and University of Pittsburgh, Almasy is studying genetic influences on cognitive function in individuals with schizophrenia and their family members. Disordered cognition is a hallmark of schizophrenia and affected individuals perform poorly on a variety of cognitive tests. However, unaffected first degree relatives of individuals with schizophrenia also perform worse than average, suggesting that these measures are a reflection of underlying vulnerability to schizophrenia rather than an outcome of the disorder. Recently, structural and functional brain imaging and measures of mRNA levels have been added to the study, providing layers of genetic data at both the gene sequence and gene expression levels and phenotypic data covering brain structure and function, behavior, and diagnosis.
Almasy also leads the Genetic Analysis Workshop, a biennial competition described as “a giant soap box derby” among statistical geneticists to devise and test methods for localizing genes and genetic variants influencing human disease. The workshop, started by Texas Biomed Senior Scientist Emeritus Jean MacCluer in 1982, is funded by the National Institutes of Health and typically draws 300 or more entries from teams around the globe. Many of the genetic analysis methods currently in use debuted at the workshop. Genetic Analysis Workshop 17, held in 2010, focused on methods for analyzing whole exome sequence data in human cohort or family studies. Planning is now underway for Genetic Analysis Workshop 18, to be held in fall 2012, which will explore methods for analysis of whole genome sequence data.