Stephen W. Scherer, senior scientist and director, Centre for Applied Genomics at the Hospital for Sick Children, and professor and director at the McLaughlin Centre, University of Toronto, has been named by Science Watch as a potential winner of a Nobel Prize for his ground-breaking research into human genomes.
Named alongside Charles Lee, professor and scientific director at the Jackson Laboratory for Genomic Medicine in Farmington, CT, and Michael H. Wigler, Professor and head, Mammalian Cell Genetics Section, Cold Spring Harbor Laboratory in New York State, the three are touted for their work specifically on genomic variation and disease.
Scherer and Lee worked together, while Wigler worked independently.
"In 2004, shortly after publication of the human genome, Scherer and Lee showed that the human genome contained what they described as 'large-scale variation,'" an essay on Science Watch says. "Both groups had found that there are large areas of the genome where long stretches, often encompassing several adjacent genes, are either duplicated or deleted."
The differences between these genomes are called copy number variants (CNVs).
"Scherer and Wigler have both shown an association between CNVs and autism spectrum diseases, and CNVs have also been identified in schizophrenia, systemic lupus erythematosus, some cancers, and even reduced susceptibility to HIV infection. The severity of diseases such as lupus and muscular dystrophy has been linked to differences in the number of copies of the DNA sequences in question."
Their work exploring multiple copies of genomes and what this means for an organism—whether these duplications are harmful or if they can evolve to new kinds of functionality—questions our understanding of genomes entirely.
"Quite apart from their role in disease and evolution, copy number variants raise another fundamental question. If so much of the genome may differ between two individuals, much of it with no obvious consequences, what does it mean even to refer to the “normal” genome?"
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Original Source: Science Watch