Dr. Stephen Scherer’s research includes understanding the composition of the human genome for studies of genetic disease built around three themes: 1) gene copy number and structural variation in the human genome, 2) determining the genetic architecture in autism spectrum and related- disorders and using this information to help families, and 3) developing infrastructure and capacity in Canada for translational genomics research.
I am physician scientist active both in basic research and clinical practice. My research interests are to 1) uncover the genetic and epigenetic bases of neurodevelopmental disorders or rare diseases with neurodevelopmental defects; 2) model genetic diseases using human patients derived cellular models and genetic mutant mice; 3) understand the circuit and molecular mechanisms underlying autism spectrum disorder; 4) develop novel molecular and epigenetic targeted therapies for genetic and epigenetic diseases.
Brain structure isn’t always the first thing that comes to mind when we think about what we inherited from our biological parents or share with our siblings. We mostly think about facial features, hair color, and even personality.
Height is a highly heritable, classic polygenic trait with approximately 700 commonly associated variants identified through genome-wide association studies so far.
David Wargowski, MD, a clinical geneticist in the Waisman Center Medical Genetics Clinic, discusses a new autism study in the journal Nature that examines the genetic variance of family members with an autism spectrum disorder.
The expanding ability to decipher human DNA has made genetic testing widely available. But it takes a pro to translate the information.