Neal Sondheimer, M.D., Ph.D.

Senior Associate Scientist, Genetics and Genome Biology, The Hospital for Sick Children
Associate Professor, University of Toronto

SFARI Investigator Website

Neal Sondheimer obtained an M.D./Ph.D. from the University of Chicago and was a postdoctoral fellow at the University of Pennsylvania. He is currently an associate professor in the Departments of Molecular Genetics and Pediatrics at the Hospital for Sick Kids and the University of Toronto.

Sondheimer’s research focuses on the regulation of mitochondrial gene expression and the impact of mitochondrial mutations in common and rare disease, including Alzheimer’s disease, aging, autism and preterm birth. Because bioenergetic capacity is critical to many parts of the body, subtle changes in mitochondrial DNA may have profound effects over time. Additionally, strongly pathogenic mitochondrial sequence variants exist in a state of heteroplasmy, a mixture of normal and mutated genomes. This state provides opportunities for therapy, as the increase of wild-type mitochondrial DNA or the suppression of mutated mitochondrial DNA could lead to improvements in health. Sondheimer and his team are investigating mechanisms that could allow shifts in heteroplasmic ratios. Defects in the maintenance of mitochondrial DNA and in the translation of gene products are also known causes of disease. Sondheimer and his team are investigating the dysregulation of mitochondrial transcription as another possible avenue to bioenergetics failure.

Funded Projects

Transgenerational mitochondrial mutations in autism spectrum disorder

Awarded: 2018
Award Type: Explorer

SFARI Funded Publications

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.

Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder. Chan A.J.S., Engchuan W., Reuter M.S., Wang Z., Thiruvahindrapuram B., Trost B., Nalpathamkalam T., Negrijn C., Lamoureux S., Pellecchia G., Patel R.V., Sung W.W.L., MacDonald J.R., Howe J.L., Vorstman J., Sondheimer N., Takahashi N., Miles J., Anagnostou E., Tammimies K., Zarrei M., Merico D., Stavropoulos D.J., Yuen R.K.C., Fernandez B.A., Scherer S. W.