Causality and the genetic thesaurus

Manuel Tardaguila is a postdoctoral research scientist at the Wellcome Sanger Institute in Nicole Soranzo’s group. The group focuses on the application of large-scale genomic analysis to unravel the spectrum of human genetic variation associated with cardiometabolic diseases, and its interaction with non-genetic and environmental cues.

Tell us about your work in up to 10 words

Putting our analysis of human genetics to the test.

What is the most overused word/phrase in your lab?

We are always trying to separate causality from correlation in Nicole’s lab. So I guess “causality”, but it’s not overused, we’re using it appropriately!

Describe the Sanger Institute in up to 10 words

A venerable institution finding its way in the 21st Century.

Why did you decide to become a scientist?

I’m just fascinated by biology and its mechanisms, and the way that things work; I’ve been fascinated since I was at school, and then university. When you are a scientist and you’re doing experiments, you have to have a detective’s mentality. I couldn’t see myself doing anything else.

Who is your science hero?

Science is a very tough job. My heroes are people who do their job very well and don’t need self-aggrandising.

I follow Jen Heemstra on Twitter, she’s an Associate Professor at Emory University. She’s boosting the confidence of people working in science. So many outreach departments just celebrate success, but she helps people to deal with the failures, which is so often overlooked. This helps keep people in science, because it’s not the kind of thing you can get in a self-help book.

I would also say Jay Shendure, who is a Professor at the University of Washington, is producing the most fascinating and imaginative results that have been seen in genetics in my lifetime. He’s certainly someone that inspires me.

What is the most exciting development in your field from the last 10 years?

Something published recently was a study on the compensation mechanism that genes have. All of us carry mutations that leave our genes broken. Some of them are unimportant -like olfactory receptors, because we don’t use smell to survive anymore – but some are important, so why are we not sick from birth? It’s because there is a mechanism whereby a gene that is broken can be recognised, and the activity of other, similar genes is triggered. It’s like looking through a thesaurus for an alternative to a word– the replacement will be a different word but the key meaning is still very similar.

What is the most surprising discovery you have made?

Even in organisms that are very well studied, like humans or mice, there is still novelty and revelations to be had. For example, we have made discoveries around types of cells in the central nervous system. There’s still room for discovery.

If you could time travel to any period in history, which would you pick?

I would travel to the Pax Romana, the period of peace in the Roman Empire. The myth is that during that time there was true development of the humanistic spirit across the Roman Empire.

The problem with looking backwards is that you always think things used to be better than they are now, though statistics say that now is the best time to be alive. But from a romantic point of view, I’d like to go back then.

If you were omnipotent for the day, what is the first thing you would do?

Don’t give me this power. There’s a saying; “If you want to know somebody, give them power. If you want to know them better, take that power away.” You don’t want me omnipotent. I would put all of that power into trying to be fair for a day, so that people who are struggling get rewarded.