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Presenter Perspectives: From Discovery to Function in Obesity


Estimated Read Time:

2 minutes

From Discovery to Function in Obesity

Saturday, June 26, at 2:15 p.m. ET

Q&A with Inês Barroso, PhD

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What is your presentation about?
The discovery of genes involved in severe childhood-onset obesity through use of whole-exome sequencing approaches. I also provide an overview of the approaches we used to try and elucidate gene function, to better understand how those specific genes might be influencing human energy homeostasis. Finally, I also discussed how particular groups of genes (gene-sets) were enriched in rare variants predicted to be deleterious, in children with severe obesity compared to blood donor controls.

What makes this topic important in 2021?
As more and more loci and genes are linked to complex diseases, increasingly the bottleneck is to understand how those genes influence disease. This provides some examples of the path from gene to function in what should be the easier end of the spectrum, that is when we know the gene. It is a lot harder for genome-wide association study (GWAS) loci where the genes themselves are not known.

Which subset of attendees shouldn’t miss this presentation?
Individuals interested in learning about new genes involved in early-onset severe obesity, and those interested in hearing a little about gene to function in obesity.

What else should Scientific Sessions attendees know about your presentation?
Often people think of genes as either having fully penetrant high impact mutations or having common alleles of low impact. My talk will present some examples that sit in the middle of these two extremes in a continuum of causality.


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