“The first experiment I did that proved a gene was responsible for disease.. when I did that experiment and got the results on a dip stick I felt super excited, here I was discovering disease and I was the only person at that time in the world that knew that result.” Elena Tucker.

This blog waves the flag for female scientists, actually it waves two flags (at the same time).

Dr. Elena Tucker is a geneticist from the Murdoch Childrens Research Institute and one of three women just awarded the 2014 L’Oreal For Women in Science Fellowship.

Her work solving genetic disease mysteries is fascinating on so many levels, she’s a mum and her desire to help children has only increased since the birth of her son.

Meet Dr. Tucker..

Martine Harte: So what’s been the highlight of your career so far?

Dr. Elena Tucker: The first experiment I did that proved a gene was responsible for disease.. when I did that experiment and got the results on a dip stick I felt super excited, here I was discovering disease and I was the only person at that time in the world that knew that result.

That gives me shivers!

Dr. Elena Tucker: Another moment was when I reported to a clinician that was working with a family that their next child had not actually inherited the disease that their first three children had died from. Their father was so excited by the news that he bobbed down and kissed the clinicians feet. That makes me feel like my work is really touching people.

Amazing, congratulations on your fellowship. You focus on mitochondrial disease – a condition which affect a person’s ability to covert food into energy – what did you discover specifically?

Dr. Elena Tucker: In terms of mitochondrial disease I have discovered four genes that can cause the condition and helped in finding an additional four. So these just add to the many genes that are now known to cause mitochondrial disease and there are still a lot more that need to be discovered.

What are energy disorders?

Dr. Elena Tucker: They’re pretty devastating, can affect basically any organ because everything needs energy to function. So they can cause seizures: heart failure, liver dysfunction, muscle weakness and children can have developmental regression, the list goes on. It’s devastating and often children will die from it as well.

So sad because thousands of families are affected and often don’t realise until it’s too late. It must be heartbreaking to lose a child in this manner. How will your work help understand the cause?

Dr. Elena Tucker: By discovering new genes we are getting a better understanding of how they work and ideally we’ll be able to develop some treatments.

My results I guess have a direct impact on the families that are affected, because once we know what gene is causing disease in that family we can offer them ways to make sure their future children won’t have the same conditions.

What drew you to your career in science?

Dr. Elena Tucker: I’ve always been interested in science in general not necessarily just genetics. I took a variety of subjects. I wasn’t convinced it was going to be a research career and so I actually changed my undergraduate degree every single year til I finally finished up with a science degree.

Then I started doing some research in a lab, I enjoyed it but didn’t love it. It was because the work didn’t directly have an impact on human health. So I hunted around before I did the PHD and I eventually got into this field of mitochondrial disease genetics. I felt like what I was doing was worthwhile and I had found my place.

Are there any stereotypes about your profession you would like a platform to dispel? This blog is that platform!

Dr. Elena Tucker: Just that scientists aren’t totally geeky, stuck indoors, heads in books all the time. We’re definitely a bunch of pretty casual, friendly people! (laughs)

Can’t let you leave without talking about your first baby, you’re on maternity leave now. How is motherhood treating you?

Dr. Elena Tucker: I’m having heaps of fun, everything Thomas does amazes me. Especially given the field I come from I appreciate having a healthy child to such a huge degree. I haven’t gone back to work yet, I know it will be hard to juggle a career with spending time with him but I hope to go back part time. I think we’ll manage!

Yep the days are long but the years are short. Wish you all the best.

You can find more about Dr Elena at the Murdoch Children’s Research Institute The MCRI’s annual Step-a-thon is now on … click here www.stepathon.org.au find out how to join!

More about the L’Oreal fellowships can be found here