HeleneName: Hélène Puccio

Where do you work? Since 1998, I have been working at the IGBMC, an academic institution right outside of Strasbourg, in the east region of France. I am currently moving my laboratory to a new institute, l'Institut Neuromyogène (INMG) located in Lyon, south of France.

How long have you been working on FA and who was the first fellow FA researcher you met? I have been working on FA since 1998 when I started as a postdoctoral fellow in Michel Koenig's laboratory at the IGBMC. In 2001, I got a permanent governmental research position through INSERM with an FA based project and was able to build my own team. Michel Koenig was the first fellow I met working on FA in 1992 (before the identification of the gene). He was working with his team, and in collaboration with Massimo Pandolfo, on positional cloning (that is trying to identify the gene responsible for FA). At that time, I was a Master's student at the University of Strasbourg, working in Dr. Jean-Louis Mandel team on Adrenoleukodystrophy.

What got you interested in FA research? After my Ph.D. dissertation in Dr. Kunkel laboratory at Harvard University working on gene identification in muscle dystrophies, I was interested in developing a line of research "post-gene" identification in a neurological disease. What do I mean by post-gene identification? Although identification of gene is very interesting, I wanted to try to better understand a disease by the creation of models (cell and mouse) and to try to develop therapeutic approaches. The frataxin gene was identified in 1996 – very little was known on the function of the encoded protein and little was known on the pathophysiology of the disease, and Michel Koenig offered me to join his lab to develop mouse models for FA and to try to identify the function of frataxin. This was a perfect match for me: a neurological disease with muscle involvement and everything left to be done post-gene area... and the bonus, in France, my home country. Therefore, opportunity is what got me interested in FA at first as I was open to work on any rare disease. But I am still here... so obviously now there are a lot of things that interest me in FA research.

What question or challenge were you setting out to address when you started this work? Identify the protein partners of frataxin (that is what other proteins in the mitochondria interacts with frataxin, hoping that this could give a clue) and generating mouse models of FA were my two goals as a postdoctoral fellow. Needless to say, we were more successful with the creation of a mouse model, although challenging, than with identification of partners of frataxin – this second question took many more years to answer!

What research topics or questions are you currently focused on? My laboratory has several lines of research. We are trying to understand what happens in proprioceptive neurons in the absence of frataxin, why these neurons are specifically affected. We are also trying to understand better the molecular signatures both in the cardiac tissue as well as in neurons to help in trying to identify potential pathways that could be targeted by therapeutic approaches. We are also trying to identify molecular biomarkers for the disease progression and correction. Finally, we are continuing our line of research on gene therapy approaches for FA as well as a pharmacological screen on sensory neurons to identify potential new therapeutic molecules.

What do you hope to achieve or what excites you in FA research? I hope to contribute to better understand the disease and help in identifying potential therapeutic approach.

If you have met someone living with FA, please tell us about that interaction. Did it have an impact on your work? I have met many people living with FA over my career, and my interactions have always been very inspiring. I am sure that meeting people living with FA has an impact on our work – it reminds us of why we are here and what our goals are when we are fed up with negative results, overwhelmed with administrative and grant writing work, or just tired of endless meetings...

You serve voluntarily on FARA's Scientific Advisory Board. Please tell us what you see as FARA's key role in the research process. FARA's key role in the research process has been its capacity to bring scientist together in amazing conferences to share our knowledge and promote collaborations, to fund important research in many labs, to identify the gaps and to identify new laboratories that could fill this gap, to discuss with the FDA and with companies, etc... I think that there are so many key roles of FARA, that it is hard to list them all.

Tell us more about yourself and/ or your journey with FA research. In my free time, I like to spend time with my family, take care of my vegetable garden, hike and ski in the mountains and play cello.

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