Stephen W. Scherer

[2] In 2014, he was named an esteemed Clarivate (previously Thomson Reuters) Citation laureate in Physiology or Medicine for the “Discovery of large-scale gene copy number variation and its association with specific diseases.”[3] Scherer was born in Windsor, Ontario, and attended Riverside High School.

[22] The sum of this work, including contributions from scientists worldwide and J. Craig Venter's Celera Genomics, generated a map and sequence of human chromosome 7.

[27] Previous theory held that humans were 99.9% DNA identical with the small difference in variation almost entirely accounted for by some 3 million single nucleotide polymorphisms (SNPs) per genome.

[31] Scherer's observations of frequent CNV events found in the genomes of all cells in every individual, co-published with Canadian-Korean scientist Charles Lee working at Harvard in 2004,[32] opened a new window for studies of natural genetic variation, evolution and disease.

[33] Scherer, Lee and collaborators led by Matthew Hurles at the Wellcome Trust Sanger Institute, as well as scientists at the University of Tokyo and Affymetrix Corp then generated CNV maps of human DNA revealing the structural properties, mechanisms of formation, and population genetics of this ubiquitous form of natural variation.

[34][35] These studies discovered that CNVs number in the thousands per genome and encompass at least ten times more DNA letters than SNPs, revealing a 'dynamic patchwork' structure of chromosomes.

[41][42][43][44][45][46][47][48][49][50][51][52] Similar discoveries to those made in autism were also found in schizophrenia, intellectual disability and other brain disorders (with often the same genes/CNVs involved), thereby establishing a new paradigm to explain how complex human behavioral conditions can have a genetic (biological) basis.

[55][56][57][58][59][60][61] These discoveries have enabled faster and more precise diagnoses, early intervention and genetic counselling and have led to the identification of new molecular pathways for the development of therapeutics.

[68][69][70] Canseq 150 is now part of the Canadian Biogenome Project, an international effort aiming to sequence the genetic material for all complex life on earth.

He has appeared on the Canadian Broadcasting Corporation (CBC), PBS Newshour, TVO Agenda, and other national TV, radio, and media, including Quirks and Quarks, explaining scientific discoveries.