Stephen W. Scherer, Ph.D.

Chief of Research and Senior Scientist, The Hospital for Sick Children
Professor, University of Toronto

SFARI Investigator Website

Stephen Scherer is chief of research and a senior scientist in genomics at the Hospital for Sick Children and a distinguished professor at the University of Toronto. He directs the Centre for Applied Genomics, a national innovation platform in Canada, as well as the $50M McLaughlin Centre at the University of Toronto.

His research group studies the role of genomic alterations in autism spectrum and related neurodevelopmental disorders. His team has pioneered novel approaches, including copy number variation (CNV) and structural variation (SV) discovery, as well as whole-genome sequencing, and the development of informatics tools, to delineate loci and genes involved in these conditions. One of his interests includes developing processes to translate the most relevant research findings back to families and care providers, in a manner that will best impact their health management.

His research also emphasizes multidisciplinary training and collaboration between clinical and basic researchers with wide-ranging backgrounds in genetics, computer science, mathematics, medicine, physics, psychiatry and statistics. Graham Collingridge, Michael Salter, Paul Frankland, Sheena Josselyn and Jason Lerch are key co-investigators.

Funded Projects

The role of the PTCHD1-antisense long noncoding RNA in autism

Awarded: 2018
Award Type: Research

SFARI Funded Publications

Three generation families: Analysis of de novo variants in autism. Costa C.I.S., da Silva Campos G., da Silva Montenegro E.M., Wang J.Y.T., Scliar M., Monfardini F., Zachi E.C., Lourenço N.C.V., Chan A.J.S., Pereira S.L., Engchuan W., Thiruvahindrapuram B., Zarrei M., Scherer S. W., Passos-Bueno M.R.

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks. Teunissen M.A., Lewerissa E., van Hugte E.J.H., Wang S., Ockeloen C.W., Koolen D.A., Pfundt R., Marcelis C.LM., Brilstra E., Howe J.L., Scherer S. W., Le Guillou X., Bilan F., Primiano M., Roohi J., Piton A., de Saint Martin A., Baer S., Seiffert S., Platzer K., Jamra R.A., Syrbe S., Doering J.H., Lakhani S., Nangia S., Gilssen C., Vermeulen R.J., Rouhl R.P.W., Brunner H.G., Willemsen M.H., Kasri N. N.

Genomic architecture of autism from comprehensive whole-genome sequence annotation. Trost B., Thiruvahindrapuram B., Chan A.J.S., Engchuan W., Higginbotham E.J., Howe J.L., Loureiro L.O., Reuter M.S., Roshandel D., Whitney J., Zarrei M., Bookman M., Somerville C., Shaath R., Abdi M., Aliyev E., Patel R.V., Nalpathamkalam T., Pellecchia G., Hamdan O., Kaur G., Wang Z., MacDonald J.R., Wei J., Sung W.W.L., Lamoureux S., Hoang N., Selvanayagam T., Deflaux N., Geng M., Ghaffari S., Bates J., Young E.J., Ding Q., Shum C., D'Abate L., Bradley C.A., Rutherford A., Aguda V., Apresto B., Chen N., Desai S., Du X., Fong M.L.Y., Pullenayegum S., Samler K., Wang T., Ho K., Paton T., Pereira S.L., Herbrick J.-A., Wintle R.F., Fuerth J., Noppornpitak J., Ward H., Magee P., Al Baz A., Kajendirarajah U., Kapadia S., Vlasblom J., Valluri M., Green J., Seifer V., Quirbach M., Rennie O., Kelley E., Masjedi N., Lord C., Szego M.J., Zawati M.H., Lang M., Strug L.J., Marshall C.R., Costain G., Calli K., Iaboni A., Yusuf A., Ambrozewicz P., Gallagher L., Amaral D., Brian J., Elsabbagh M., Georgiades S., Messinger D.S., Ozonoff S., Sebat J., Sjaarda C.P., Smith I.M., Szatmari P., Zwaigenbaum L., Kushki A., Frazier T., Vorstman J.A.S., Fakhro K.A., Fernandez B.A., Lewis M.E.S., Weksberg R., Fiume M., Yuen R.K.C., Anagnostou E., Sondheimer N., Glazer D., Hartley D.M., Scherer S. W.