Valentina Lionello is a Postdoc researcher at Institut de génétique et de biologie moléculaire et cellulaire (IGBMC), in Strasbourg. Specialising in molecular and cellular biology and in physiology, she has five years of experience in research. Valentina’s study ‘A new therapeutic strategy for centronuclear myopathy’
developed during her PhD, was published in the journal Science Translational medicine on 20 March 2019.
The study is groundbreaking research, which identified amphiphysin 2 (BIN1) as a potential therapeutic target in some congenital myopathies and subsequently found it was possible to specifically modulate the level of this molecule to reduce all signs of a severe form of myopathy (MTM1). The Information Point spoke with Valentina to learn about her work on the project.
How did you come to work at IGBMC work and in the lab of Jocelyn Laporte?
Having finished the master degree, I decided to continue working in research and one of the options I had was to conduct a PhD. I read several PhD positions published online and I applied to several of them performing various interviews visiting the laboratories. One of the projects I applied was posted by Jocelyn Laporte and Belinda Cowling, it was about rare congenital diseases called centronuclear and myotubular myopathies and funded by Myotubular Trust. I admit that I have never heard about this disease before. I had skype and phone interviews and then I visited Laporte team and the IGBMC institute. At that time, I knew that the IGBMC was a great public research center and I read about the great Jocelyn Laporte and Belinda Cowling discoveries online. They explained me in detail the projects they had in mind with patience. Their common goals on identify a therapy for centronuclear and myotubular myopathy patients impressed me and convinced me that this would have become my project for the next four years.
What made you want to become a researcher?
I need to go back to my childhood. I have two elder sisters and we have 17 and 18 years of difference. I used to draw in my sisters’ rooms when I was a child and listen while they were studying. One of them studied Molecular Biology for her university studies. I learnt about DNA, nuclei stem cells passively since I was three years old and I always found this field fascinating. When I was 18, I wanted to be a medical doctor but I did not pass the entry test in Italy. So, I thought that if I could not cure patients directly I could help to develop therapies to improves patients life. Probably thanks to my free sister’ lessons I got when I was younger, I succeeded at the University; I enjoyed the research internship and I am still enjoying to develop new hypothesis and testing them everyday.
Can you describe a work day for us?
It is difficult to describe one of my working day as they are always different. The only thing I do every day is biking. I love biking and I bike to the lab along a small river, winter and raining days included, with my slow speed for a total of 16 km each day. When I arrive in the lab I am full of energy. I usually do not sit in front of the PC but I go back to the last experiments I did the day before.
The first best moment of the day is when I check my agenda and I think, organize and imagine the experiments I want to perform. My day does not require only pipetting but a lot of flexibility. I organize around two to three experiments per day. It can happen that I never stop and some days I don’t have lunch as I am too busy and focused. Sometimes unplanned results or technical mistakes require to change my daily plan and to identify new strategies for my experiments.
The second-best moment of the day is the discovery of a result. It is complicated to explain the adrenaline I feel each time. For a few seconds I am the only one in the world that knows something totally new. When the results are positively impacting on the research I am conducting, you cannot imagine how happy and satisfied I am.
At the end of the day I write or answer to emails, I usually finish late in the lab and biking home I listen news on the radio. My day is normally finishing with a good plate of pasta speaking on the phone with my family and boyfriend who is working abroad.
How did you come to work on the new therapeutic strategy for centronuclear myopathy project?
Jocelyn and Belinda wrote the hypothesis for a new strategy to cure myotubular myopathy before my arrival in the team. The hypothesis was based on previous results obtained in the lab by Christine Kretz and thanks to Belinda results published in 2014 and 2017 showing new therapeutic strategies for centronuclear and myotubular myopathies.
After the first promising results obtained generating a new animal model, I have put a lot of energy on the project from April 2015.
Can you tell us about the image that appears on the Science Translational Medicine website?
Centronuclear and myotubular myopathy patients have disorganised skeletal muscle fibers; the same characteristic is also present in the animal model resembling the disease. The cover picture of the Science Translational Medicine website shows that skeletal muscle fibers organization is rescued modulating BIN1 protein level in the myotubular myopathy mouse model.
Can you tell us a little about what goes on behind the scenes of a research lab to make a study like your possible?
Jocelyn Laporte has a dynamic international team. We are all collaborating and helping each other on the projects. Each person has their own project, however we all share the results and discuss the issues together to find the best solution or interpretation. Moreover, we have support and supervision to be focus on our goals. Finally, we are having a lot of fun in the lab. We work a lot but singing, eating and laughing in a great international atmosphere.
What characteristics do you think your research project required?
My project required passion, determination, organisation and critical thinking. I am glad to have worked hard on it and contributed to understand a new mechanism and therapy for a rare genetic disorder.
How was the project funded? Can you give us an idea of how much it costs to fund a days research?
The project was supported by different funders including the Myotubular Trust organisation and Sparks the Children’s Medical Research Charity who provided my salary and covered most specific running costs. Other funders were Inserm, Centre national de la recherche scientifique (CNRS), University of Strasbourg and Labex, who mainly supported salary of other participants, equipments and the usage of our internal platforms, and also kind of indirect costs as building electricity. The funding helped to generate a new animal model, to produce tools such as adeno-associated virus (AAV) and to access to technologies necessary for the project such as microscopy. My PhD salary was totally covered by Myotubular Trust funding for three years and then by ANR.
How does it feel to be carrying out research into centronuclear and myotubular myopathy at a time when so much progress is being made?
I feel glad that a lot of progress have been made in the last years for these rare diseases. However, I would feel even more satisfied when most of the patients will have the possibility to access to a therapy. I believe that we still have a lot to work on to improve the life of all centronuclear and myotubular myopathy patients.
Do you intend to continue working on centronuclear myopathy research projects and what will your next project involve?
In the next months in Jocelyn Laporte team, I will work on the development of new therapeutic strategy and I will investigate aspects of disease mechanism. I don’t have plans even if my time in Jocelyn Laporte team is almost at the end but I hope to find a job to continue helping rare disease patients.
- A new therapeutic strategy for centronuclear myopathy (lay summary)
- Institut de génétique et de biologie moléculaire et cellulaire (Jocelyn Laporte team)