Genetic of Autism
Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental disorder with estimates of 40%-90% heritability. Yet, very little is known about the underlying genetic mechanism of this disorder. We are applying advanced biostatistics and bioinformatics approaches to large genomics datasets of ASD with the aim to decipher the complex genetic architecture of this disorder. In addition, we study whether specific genetic variations underlie different phenotypic manifestations associated with ASD.
Gene-environment Interactions in Autism
Both genetic and environmental factors are contributing to the predisposition to ASD. However, how the interaction between these factors contributes to the etiology of this disorder is less understood. We are studying the effect of different environmental exposures on ASD susceptibility and test whether these effects are modified by different genetic profiles.
Metabolomics of Autism
Metabolomics is field that consists of the measurement of all endogenous and exogenous low-molecular-weight metabolites in an organism at a specified time under specific environmental conditions. We are using mass-spectrometry based metabolomics to measure alterations in circulating metabolites in children with autism and understand their role in autism etiology.
Savant Skills and Autism
Savant skills, which are defined as “outstanding skills in individuals with otherwise intellectual impairment,” are remarkably common among people with ASD. Yet, very little is known about the relationship between these two distinct traits. We study the risk factors and characteristics associated with people with both ASD and savant skills to better understand the shared mechanisms underlying these two distinct traits.
Population Disparities in Autism
Population disparities are a major concern in public health. We study population differences in autism prevalence between the Bedouin and Jewish populations living in the Negev. We further use sophisticated statistical approaches to ask whether specific environmental or genetic risk factors underlie such disparities.
Genetic Epidemiology of other Complex Traits
I am also collaborating with clinicians from Soroka Medical Center and Maccabi Helth Services on genetic and epidemiology studies of other complex traits in the population of the Negev.