Next up we have Eduardo Tizzano of Sant Pau, Barcelona, Spain, giving the first Q & A of 2013.
When and why did you first decide you wanted to be a scientist/clinician?
It was in 1979, while in my fourth year at the Faculty of Medicine, University of La Plata, Argentina. I decided I wanted to be a paediatrician and a geneticist - the idea of combining clinics and science fascinated me.
How did you come to work on SMA?
When I was a resident in paediatrics (1981-1984) I saw several cases of SMA type I. At that time we could only provide the patient with palliative care and offer the parents simple genetic counselling. I thought that some day perhaps I could help these families. Then the molecular era arrived. It was not long after that when I moved to Spain to complete my PhD that we started to collect DNA samples from SMA families. We soon began to collaborate with Judith Melki, who discovered theSMN gene. The fruit of this collaboration was that we were able to confirm that the SMN gene was truly responsible for SMA, describing the first recurrent mutation in exon 3 in five Spanish families (Bussaglia et al. 1995).
What would you be if you weren’t a scientist?
A musician. Perhaps an orchestral conductor. However, a scientist can play music (as I usually do), but a musician can’t do research or clinics.
If you are not in the lab, you are...
Playing or listening to music (I am truly an audiophile), looking at the sea…sometimes gardening.
Describe yourself in three words
Tenacious, passionate, optimistic (to date…)
What has been the most important moment of your career so far?
I have good memories from every period in my scientific career, but I can recall some particularly emotive milestones, such as when my first paper as first author was published in the Journal of Pediatrics when I was a postdoctoral fellow in Toronto (1992), when I organized the first meeting bringing together Spanish SMA families (2000), or when I received the Queen Sophia Award for my contribution to SMA (2007).
What is your most memorable finding relating to SMA?
Besides the genetic side of the disease, my main line of research is to investigate SMA during development. I have been fortunate to have excellent collaborators on my team who have made it possible to describe developmental aspects of the disease for the first time in humans: the mechanism of motor neuron death (Soler-Botija et al. 2002, 2003), SMNexpression (Soler-Botija et al. 2005), muscle involvement (Martínez-Hernández et al. 2009), foetal movements (Parra et al.2011), and pre- and post-natal synaptic defects (Martínez-Hernández et al. 2013).
What is your favourite conference location?
Barcelona has everything. I was local host in 2008 for the 40th European Society of Human Genetics meeting with 2,200 participants and everyone commented about the venue, the atmosphere, the food, the people, the architecture… Hopefully, we’ll have the chance to host a European SMA Conference here in the near future.
What is the best scientific advice you ever received?
“See what everybody else sees, but think differently. That will make you a good researcher.”
If you could start your career all over again, are there things you would do differently?
Life is short and gives you few opportunities. I made my decisions convinced that these choices would fulfill me. I was born in Argentina of Italian immigrant parents and, an immigrant myself, I am constantly open to change. The future is uncertain but I am very satisfied and I would not change the places, events and achievements in my career to date.
In your opinion, what makes a good scientist?
First, to be a good person. Second, to be a good leader. Third, to look beyond the obvious, not only in science but also in life.
Where do you see the SMA research field in the next 10 years?
I see four realistic objectives: early diagnosis > early intervention > improvement in quality of life > stopping disease progression. We have to define the how (a combination of protocols rather than a single solution), the when (early pre-symptomatic stage), and the where (not only motor neurons but muscle, neuromuscular junction, heart, other tissues) of therapies.