Carl Ernst, PhD

Department of Psychiatry,
McGill University –

Functional analysis of the 16p11.2 locus using patient-derived induced-pluripotent stem cells

Large deletions of DNA on chromosome 16 are associated with Autism Spectrum Disorders (ASD) in about 1% of all Canadians with autism, and many more Canadians with intellectual disability. I have recruited and clinically assessed two independent families carrying the chromosome 16 deletion as well as unrelated control subjects. I have made, fully characterized, and validated stem cells from each family member, derived from their skin.

I propose to change these stem cells into brain cells and study how brain cells from subjects with the chromosome 16 deletion differ from subjects with normal chromosomes. These studies are important in understanding how altered brain development can lead to autism and may provide a single gene target for therapeutic intervention for some people with autism.