2022 Jenike Young Investigator Award

Expanding the genetic landscape of pediatric OCD

Emily Olfson, MD, PhD

Yale School of Medicine (New Haven, CT)

Award Amount: $49,993

While the role of genetic factors in the development of OCD has been emphasized through research, more attention is needed to identify specific risk factors and underlying biological pathways. Past OCD genomic studies focused on single categories of genetic variation, but data suggests that a combination of genetic changes may impact an individual’s likelihood of developing OCD. Past genomic studies in OCD have a vast variety of factors, yet these all require different analysis techniques. This study will examine rare, common, sequence, and structural genetic variations simultaneously within the same individuals with OCD using a sample of 200 family trios. With the help of a whole-exome DNA sequencing study of families where the child has a primary OCD diagnosis that demonstrated the role of rare sequence variation, this study will add genome-wide array data to examine the role of rare and common variants. Additionally, the data from these 200 families will be combined with a separate cohort of 200 families with body-focused repetitive behavior diagnoses to examine genetic factors that are shared and distinct across the OCD spectrum. By integrating different categories of genetic variation, this study aims to advance our understanding of the genomic landscape of pediatric OCD and related conditions, provide insight into how variants impact risk of developing OCD, and inform future interventions.