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Dalila Pinto: From CNVs to Pathways

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Title: Postdoc, The Hospital for Sick Children
Education: PhD, University of Utrecht, the Netherlands, 2006
Recommended by: Stephen Scherer, The Hospital for Sick Children

As the search for the missing heritability goes on, Dalila Pinto says that the role of rare variants in common diseases is being increasingly recognized. Pinto was part of a team that developed a high-resolution map of CNVs in a healthy population, which was reported in Nature in April. Then, she applied that map to the study of CNVs in autism, looking at children with autism and their parents. That study, Pinto says, had two components: first, she and her colleagues searched for SNPs that were more common in cases than in controls and, second, from their 1,500 samples, Pinto and her team didn't find a single one. "We were not able to find common variants — common SNPs — that would pass the threshold of significance," Pinto says. But in looking at rare variants in the second part of the study, her team had better luck. The genomes of the children with autism were enriched for rare copy number variants. "This was really important," she says.

While there may be different rare variants associated with disease, Pinto says that they may affect the same pathway or interacting pathways. "One or two individuals might have a specific type of deletion and another two individuals might have a totally different variation in a different gene, but it could be that these two genes, they interact ... in the same pathway, or related pathways," she says, adding that it would make sense for those genes to then affect different neuropsychiatric diseases.

Looking ahead

But studying rare variants is tricky. They occur, by definition, infrequently in populations. In the future, Pinto says she wants to combine computational and experimental approaches to study rare variants and the biological pathways they affect. For example, she would follow a genome-wide survey with computational analysis and then take an experimental follow-up on certain loci to get at the mechanisms of their effect on disease.

Papers of note

Her most recent work, applying that CNV map to study autism, appeared in Nature. This, Pinto says, was important work as it brought computational and experimental approaches together to study disease. "The interesting part is to apply that knowledge [from the CNV map] to try to understand disease and try to understand susceptibility for disease," she says.

And the Nobel goes to ...

If she were to win, Pinto would like it to be for helping to improve children's health. She says she would be pleased if "I could improve health, or at least contribute to [better] understand disease — mostly for children."

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