Audrey Thurm, Ph.D.

Research Topics

Through the Neurodevelopmental and Behavioral Phenotyping Service, Dr. Thurm’s research interests focus on evaluating and improving upon diagnostic and cognitive assessment instrumentation through longitudinal studies of risk and characterization of neurodevelopmental disorders. In addition to studying the prodromal and post-diagnostic characterization of idiopathic autism spectrum disorder (ASD), studies also focus on phenotypic explorations of genetic disorders associated with Intellectual Disability and ASD. A goal of this research is to improve instrumentation to allow for more finely-tuned developmental assessments that distinguish various phenotype-genotype relationships and serve as useful treatment outcome measures. Using team science, Dr. Thurm works on both extremely rare genetic conditions as well as more common conditions, as findings from each inform the other. 

In addition to serving as associate investigator on a variety of natural history and treatment studies of rare and undiagnosed genetic conditions in the intramural research program (through institutes that include NIMH, NICHD, NHGRI & NHLBI) and roles on several extramurally funded grants, Dr. Thurm is Principal Investigator on NIMH protocol 06-M-0065 , The Neurodevelopmental and Behavioral Phenotyping Screening Protocol and protocol 15-M-0139 , Mapping the Genotype, Phenotype and Natural History of Phelan-McDermid Syndrome, a study to learn more about the medical, behavioral and cognitive features of Phelan-McDermid Syndrome that is part of the RDCRN Developmental Synaptopathies Consortium .