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.
Pregnancy and birth risk factors
The pregnancy and birth are critical periods for brain development. We study whether different pregnancy and birth characteristics are associated with risk of ASD. Identifying such associations will shed light on the timing and biological mechanisms contributing to the development of ASD.
Today, ASD diagnosis is based on the clinical evaluation of the child's behavior. We are trying to identify biological and/or physiological markers associated with ASD that could facilitate earlier diagnosis of ASD. Specifically, we use mass-spectrometry based metabolomics to measure alterations in circulating metabolites in children with ASD and understand their role in autism etiology.
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 are a major concern in public health. We study population differences in the prevalence of ASD between the Bedouin and Jewish populations living in the Negev. We further use sophisticated statistical approaches to what are the factors underlying these population disparities.
Statistical guidance to other projects
In addition to my main interest in ASD research, I also collaborate and provide statistical guidance to a variety of other epidemiological and clinical studies.