Stephen Wayne Scherer is a Canadian scientist specializing in the study of genetic variations and their link to human diseases. According to toronto.name, Scherer’s groundbreaking discoveries and contributions have reshaped the scientific community’s understanding of genes and their role in the development of various conditions.
Early Life
Stephen Wayne Scherer was born in Ontario. He earned his bachelor’s degree from the University of Waterloo, followed by a master’s and a doctorate from the Faculty of Medicine at the University of Toronto.
A Shift in Perspective
One of Scherer’s most influential contributions to genetics was the identification and description of copy number variations (CNVs) in the human genome. He provided the first insights into CNVs as a common form of genetic variability.
Previously, it was believed that humans shared 99.9% of their DNA, with minor differences explained by approximately three million single nucleotide polymorphisms (SNPs). Larger genomic changes, such as the loss or gain of significant nucleotide sequences, were considered exceedingly rare.
Scherer’s discovery of frequent CNV changes present in all human genomes shifted this narrative dramatically. His findings opened new doors for understanding genetic variability, evolution, and disease.
Initially, his groundbreaking work faced skepticism within the scientific community. However, Scherer remained confident in the validity and significance of his findings.
A Scientific Sensation
Scherer then developed the first CNV maps of the human genome, revealing the structural properties, formation mechanisms, and population genetics of this previously unrecognized form of natural variability. These studies were transformative, demonstrating that thousands of CNVs could be identified within a single genome, encompassing significantly more data than SNPs. This suggested a “dynamic patchwork” structure within chromosomes.
Subsequent studies by other scientists confirmed and expanded upon these findings.
The Development of Diagnostic Tests
Between 2007 and 2010, Scherer identified numerous CNVs linked to various diseases. His work also revealed that over 10% of individuals with autism possess specific genetic markers.
These discoveries led to the development of accessible tests for early autism diagnosis. Scherer, along with colleagues from Chinese and American universities, began using genome sequencing to identify clinically significant genetic variants in Canadian individuals with autism.
Leading a Landmark Project
From 1998 to 2003, Scherer led a pivotal project involving the study of chromosomes from seven individuals. This research identified genes responsible for holoprosencephaly, renal carcinoma, Williams syndrome, sacral agenesis, citrullinemia, and renal tubular acidosis.
During the project, Scherer discovered the largest known gene in the genome, which was later found to have a direct link to autism. This work culminated in the publication of the first detailed description of seven human chromosomes.
Additional Breakthroughs
Scherer’s subsequent research led to the identification of genes associated with fatal forms of epilepsy. In 2012, he launched the “Personal Genome Project,” a significant initiative aimed at further advancing the understanding of genetic diseases.
Stephen Wayne Scherer’s contributions to genetics have left an indelible mark on science, improving the understanding of human genetic variability and offering hope for early diagnosis and treatment of complex diseases.
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