Neurogenetic Studies of Trichotillomania and Excoriation Disorder

The overall objective of this study is to use a series of state-of-the-art neurogenetic approaches to advance our understanding of the genes and pathways that contribute to trichotillomania and excoriation disorder.

• In aim 1, we will use whole-exome DNA sequencing to examine rare sequence variants in 200 parent-child trios where the child has trichotillomania or excoriation disorder.
• In aim 2, we will examine rare copy number variants in the same 200 parent-child trios using genome-wide array data or low-pass whole-genome DNA sequencing.
• In aim 3, induced-pluripotent stem cell brain organoids will be derived from 4 cases with trichotillomania and/or excoriation disorder and matched controls. Single-cell RNA sequencing (scRNA-seq) will be performed to explore transcriptomic differences between cases and controls. Genomic data generated under this award will be shared through dbGaP.

• Type: Parent-Offspring Quads
• Archive: The database of Genotypes and Phenotypes (dbGaP)