Cécile Martinat has spent the past 15 years trying to understand rare genetic diseases and discover drugs to treat them. She has done so by studying stem cells, capable of multiplying an infinite number of times and producing all the cell types found in our bodies. A scientific and human adventure.
In 2015, Cécile Martinat took over at the helm of the Institut des cellules souches pour le traitement et l’étude des maladies monogéniques (I-Stem - Institute for Stem Cell Therapy and Exploration of Monogenic Diseases) in Évry. A year later, in 2016, she was elected President of the Société française de recherche sur les cellules souches (FSSCR - French Society for Stem Cell Research), which aims to develop and promote French research in this field, both nationally and internationally. Two appointments that were entirely merited given that in less than 15 years, the biologist has become one of the top experts in stem cells and rare diseases, in France and the world. Originally, there was nothing to suggest she would follow this path. "I was born in 1973, in the middle of nowhere, in a small village called Saint-Pompain, with only 700 residents, near Niort in the Deux-Sèvres area”, she recounts. “I moved to Paris at the young age of 14, when my mother, sister and I joined my father, who was a cultural attaché at the Académie des beaux-arts". The transition from her native village, where her main pastimes were "climbing trees and scrambling on top of haystacks” to the hectic life of the capital was not easy. "But, on the other hand, it allowed me to discover the world of art, which I love", she admits. So, like her older sister, who became a museum director in the Allier region of central France, she could easily have followed in her father’s footsteps and embraced a career in the arts too. However, she preferred instead to opt for a career in science... just like her mother, who was a doctor.
After obtaining her high school diploma, she went to Pierre-et-Marie-Curie University in Paris. There she met two professors who were to have a lasting influence on her: Pierre Netter, a microbiologist, and Bernard Dujon, a geneticist. "They were both passionate and fascinating teachers. They were the ones who made me want to continue down this route", she stresses. As she puts it: “In fact, I never really had a career plan; I tend to work on the basis of encounters…".
Then in 1997, she began a Ph.D. thesis in virology at the Institut Pasteur. After that she flew off to the USA in 2001 for a post-doc at Columbia University in New York. It was there that she discovered pluripotent stem cells for the first time.
My work consisted in using embryonic stem cells from mice, then humans, in order to gain a better understanding of the role of certain genes in genetic forms of Parkinson’s disease [...] I was immediately gripped by the extraordinary plasticity of these cells. And I knew straight away that I wanted to continue in this field.
That said, we might never have seen her carry out her work in France. Because, on this side of the Atlantic, embryonic stem cell research was banned until 2013! "In order to be able to continue working on these cells, I had decided to stay in the USA", she says.
Fortunately, in May 2005 she crossed paths with biologist Marc Peschanski at a scientific conference in San Diego. The researcher told her that he was intending to open a large lab dedicated to stem cell research in the imminent future. This lab was none other than… I-Stem. "I thought it was an extremely ambitious project”, she recalls. “And Marc seemed to be very reactive, a real driving force. So after two hours of discussions with him, I was convinced that I had to return to France to be part of this adventure!"
Six months later, in November 2005, she landed back on French soil. And once back, she had yet another “encounter” that had a significant impact on her professional choices: the Téléthon. "I arrived in the midst of preparations for this event. Patients with rare genetic diseases, and their families, came to visit our labs. And for the first time, I saw at first hand these patients and what things were like for them. For me, it was a huge wake-up call. It was at that moment that I grasped the urgent need to develop treatments for these diseases, for the majority of which there is still no cure…"
Her area of focus is “neuromuscular diseases”, i.e. diseases affecting the muscles, such as Steinert's disease or spinal muscular atrophy, which she has been studying since she joined Inserm in 2007. "Concretely, we use human pluripotent stem cells to produce motor neurons, which control the muscles from the spinal cord. These cells are affected in such diseases, but it isn’t possible to harvest them from patients for ethical reasons. Then we analyze them in order to understand the molecular mechanisms of neuromuscular diseases and identify new therapeutic avenues", she explains. Thanks to this strategy, in 2011, her team managed to gain a better understanding of the mechanisms of Steinert’s disease. This research subsequently led to the identification of a promising compound to reduce the defects related to this disease. “At present, this drug is being tested in patients in a phase 2 clinical trial”, she enthuses.
Two years later, in 2013, Marc Peschanski – on the eve of his retirement – earmarked Cécile Martinat to take the helm of I-Stem. "At that point, I’d just found out I was pregnant with my second child. So I was afraid I wouldn’t be able to juggle everything, she says. But it was Marc who – once again – gave me a push in the right direction. I’ll always be grateful to him for that." Since then, the researcher has worked tirelessly. "The trouble with Cécile is that she still finds it difficult to say no to external requests", notes her colleague of 10 years, Christine Baldeschi. But out of the question all the same for Cécile Martinat to sacrifice her family life. "Most of my free time is spent with my 4 and 5-year-old sons, Émile and Jules. I love taking them to the kindergarten and cinema!" As for the future, the researcher hopes to "help realize the therapeutic hopes resting on stem cells in the field of rare genetic diseases". And if all goes well, this could be the case in 10 years’ time.
Find out more about Cécile Martinat
Cécile Martinat directs the Institut des cellules souches pour le traitement et l'étude des maladies monogéniques (I-Stem 5Institute for Stem Cell Therapy and Exploration of Monogenic Diseases), Inserm unit 861/Universite d'Evry Val d'Essonne/Genopole d'Evry), in Evry.
- 1997-2001 Doctorate in virology at the Institut Pasteur in Paris
- 2001-2005 Post-doctorate at Columbia University in New York
- 2007-2016 Inserm research fellow at I-Stem in Évry
- Since 2015 Director of I-Stem
- Since 2016 Inserm Research Director
- Since 2016 President of the Société française de recherche sur les cellules souches (FSSCR - French Society for Stem Cell Research)