Profile a Sanfilippo Researcher: Dr. Maria Francisca Coutinho

15 Oct 2021

Meet Dr. Maria Francisca Coutinho, a researcher at the National Institute of Health Dr. Ricardo Jorge, located in Portugal. She is working to develop drugs that target the neurological symptoms of Sanfilippo.

We are very grateful to all the researchers around the world working tirelessly to solve Sanfilippo. Below is a Q&A to get to know a little bit more about Dr. Coutinho and the research projects she is working on.

1. Why did you become a scientist? 

I have always been fascinated by nature, ever since I was a child. Back in those days I used to write in journals where I registered all sorts of observations and “experiment results” and kept telling everyone I would become a scientist one day.

Later, when I became aware of genetics and the effect a ‘simple’ change to the DNA may have over human health, I just felt so shocked that I simply knew it would have to be my focus of research.

2. What got you interested in Sanfilippo research?

I did my internship in 2007, right after the gene whose defects underlie Sanfilippo type C was cloned. Back in those days, I knew nothing about lysosomal storage diseases, and how devastating they can be, but I started learning about them and never wanted to change my focus of research ever since. 

My training focused on understanding the changes in the Sanfilippo type C gene common in the Portuguese population. We screened the gene for defects and then tried to check the effect each one of them had over different features (RNA levels; protein structure and so on). 

But now, more than a decade later, I figured it may be time to try to do something more, and address those defects in a way to overcome the disease. Fortunately, I work in a very eclectic research group and, while all of us have been working on lysosomal storage diseases, we have been using different approaches and some of us have been working on therapeutics for quite a while now. 

3. How would you describe your research to a non-scientist?

We are trying to solve a very difficult problem: the need to address the Sanfilippo neurological symptoms. 

Like many other researchers, we do not work with the children directly but with their cells. We are right at the beginning of a long road, when it comes to drug development. 

We want, not only to design and develop a proper drug, but also to make sure we test it in the best possible conditions, for its results to be sound and secure. We used to get cells from simple skin biopsies, but now we are recovering stem cells from fallen baby teeth and turning them into brain cells, which will be a great model to study this devastating disorder and to test the new class of drugs we have been working with.

We are also actively working on the development of a ‘carrier’ for those drugs to make sure the drug gets to the brain, which is its ultimate target, instead of getting lost in blood circulation. 

4. What makes you most excited about Sanfilippo research?

It’s the thought that, eventually, our efforts today may end up helping someone, in the future.

Probably we’re not going to be the ones who solve this puzzle. But, if some of our ideas, or experiments help others get there, that would be just enough. That’s how science works, after all. It’s a constant opportunity to learn something new and then apply that knowledge in a practical way so that, ultimately, people can benefit from it. 

The therapeutics we are trying to implement is a perfect example of this: we rely on everything that has been shown and learnt about the normal function of a cell and try to use that knowledge to our advantage.

5. What is your favourite part about your day in the lab? 

Somedays I would say it would be cell culture, because it is great to see how the cells grow from tiny pieces of dental pulp, to a sort of bright mat, which covers a whole plate.

Others, I would tell you it would be getting a certain experiment to work after a significant number of failures.

Some other days I would swear it would be reading the latest papers and learning their lessons, or having a new idea on what we could do next.

But there are also some days when I would confess the best part of the day would be leaving the lab and getting back home to restore strength and get back the next day.

6. Who (in or out of science) has influenced you the most?

As a child, I was fascinated by David Attenborough’s natural history documentaries and, even after all these years, I still believe he was actually the one who made me want to become a scientist in the first place. So, there is no way I can leave him out of this story.

At a more personal level, though, I owe my whole education to two wonderful women: my grandmother and my godmother, who took care of me since I was a baby. I was really lucky to have them by my side, and they surely made me who I am today.

7. When you’re not busy with research, what do you like to do?

Just a few years ago, I would say to you I loved to spend my time reading, writing, or even painting.

But, now, I am a mother, and all my priorities got a major twist, as you can imagine. She’s now almost 3 years old, and even the tiniest thing sounds new and exciting, regardless of whether it’s a cat on the rooftop or an ant on the ground. So, basically, all I want to do is share these small wonders, and spend time with her and my hubby. You know: some quality family time.