Welcome to PTCHD1-base. This website is aimed at researchers, clinicians, parents, and caregivers, with a view to providing useful information relating to PTCHD1 and its role in autism spectrum disorders, intellectual disability and other neurodevelopmental and behavioural conditions.

We hope to provide the most up-to-date research information, collating findings, the latest hypotheses as well as more speculative ideas from our own research efforts and around the globe.

While this site is a work in progress, I hope to add more information over the coming weeks, including results from our clinical study, with clinical findings from 20 families with deletions of part or all of PTCHD1 (N=17 families) or with coding mutations within the gene that lead to premature truncation of the protein (N=3 families). This paper was recently accepted for publication in the journal “Clinical Genetics”, and I will provide details of the paper and the results as soon as the publication embargo deadline has passed. This study will hopefully be the springboard for future, more in-depth clinical studies of PTCHD1 individuals.

cheers

John

John B. Vincent, Ph.D.

Head, Molecular Neuropsychiatry & Development Lab,

Senior Scientist, Centre for Addiction & Mental Health

Professor, University of Toronto