In February, we launched Meet the Members, a new interview series for our website, in which Ruchee Patel from our Social Media Committee interviews high profile people from across the WMS. 

This month, in celebration of International Women's Day, Ruchee met with Dr Gisèle Bonne, to learn more about her career.

Over to Ruchee.

Dr. Gisele Bonne in conversation with Xavier Bailly during the 22nd Congress in Saint Malo in 2017

Dr. Gisèle Bonne in conversation with Xavier Bailly during the 22nd Congress in Saint Malo in 2017

While I am not a basic science researcher by training, I had the most wonderful and stimulating conversation with Dr. Gisèle Bonne last week as a continuation of my “Meet the Members” series.

Dr. Bonne is a senior scientist leading a team at the Center de Recherche en Myologie (CRM) within the Institut de Myologie on the Campus of Pitié-Salpêtrière Hospital which is part of Sorbonne University, Paris, France. Her team is focused on the genetics and pathophysiology of neuromuscular disorders linked to the extracellular matrix and to the nucleus.

Among other things, her team is currently working on defining the genetic and clinical spectrum and natural history of the striated muscle laminopathies (which hold a special place in her heart, as you will read about later) and investigating the pathophysiological consequences of LMNA mutations with the overall goal of identifying and assessing therapeutic avenues for these disorders. She is a true inspiration, and one of the humblest, most accomplished women in science I have ever had the pleasure of meeting. I am so glad Dr. Straub selected her as my next feature.

Early career

It was reassuring for me as a young member who is still trying to find her path that Dr. Bonne also took her time in her early career trying to decide what she wanted to work on.

After enjoying biology during her baccalaureate years, she spent two years pursuing a University Diploma in Technology, however working as a technician in a medical analysis lab did not excite her. She had great mentors who encouraged her to reorient towards a Master’s programme, which was focused on developmental biology, more specifically working on mitochondria within the developing muscle.

As the only one working on muscle in a lab focused on mitochondria in the developing brain, she spent time developing her own protocols to be able to perform her studies, and began to love the muscle as an organ for research. It was during this training in 1989 when she first got to attend a seminar hosted by Professor Michel Fardeau, a pioneering myologist, who presented a patient with muscular dystrophy. This was her first time seeing one of these patients, and inspired her such that she changed labs and truly entered the field of myology. Her future PhD work focused on mitochondrial myopathies.

At the end of her PhD, as she pondered her next steps, she realised she wanted to change gears and explore mitochondria in cardiac muscle. To pursue her project though, she had reached out to Dr. Ketty Schwartz (a renowned expert in cardiovascular research) for a meeting to discuss obtaining human heart samples to carry out her experiments.

Dr. Bonne expressed to me just how scared she was about this meeting going in, coming face-to-face with such a prominent scientist in the field, and asking her for such precious samples with her small idea. It came as a complete shock to Dr. Bonne when, at the end of her brief meeting, Dr. Schwartz offered her a post-doctoral position in her lab with the goal of identifying the genes responsible for two rare diseases her lab was working on. She told me she thought about it for an hour, but could not think of any reason to turn down this amazing opportunity!

As a result, Dr. Bonne was part of the team that discovered the MYBPC3 gene, responsible for a form of familial hypertrophic cardiomyopathy.

Returning to France

When she was applying for competitive researcher recruitment to obtain a tenure position at the National Institute of Health and Medical Research (Inserm) in France, she was in the United States where she spent 18 months in Colorado with Professor Leslie Leinwand.

She recalls the incredible phone call she received in the middle of the night in the US from her colleagues in France, and Dr. Ketty Schwartz congratulated her on receiving a permanent position at INSERM. She literally jumped for joy by herself in her apartment upon receiving the news, and has been with the institution since!

Dr Bonne returned to France to start the project which became her most memorable and proud career accomplishment: identifying the mutation in the LMNA gene causing the autosomal dominant form of Emery-Dreifuss Muscular Dystrophy (EDMD) (doi: 10.1038/6799)!

She described how far gene sequencing has come over the course of her career. During her PhD, sequencing was still 200 bp per run; at the time of this project, eight years later, the sequencing had already progressed to around 800pb, but that’s still nothing compared to now!

She had access to a 52-person family in France, 17 of whom had EDMD. After months of hard work, she found the locus and screened several genes in the area (ultimately a launch point for further investigation into the group of disorders now referred to as the laminopathies).

The day she found a difference in the control and disease patient’s gel banding pattern, she was ecstatic she finally found the mutation responsible. She recalls exon 1 proving difficult to sequence, and after having completed the mapping of all the other exons to not find her answer, she went back and persisted.

This taught her “to never stop doing something good until the end, conclude what you start, sometimes the end is where the answer lies.” To this day, she still has the acrylamide gel stained with silver with the identification of this discordant banding pattern, shriveled to the size of a coin after drying out on the lab countertop! What a treasure to continue to hold onto!       

Around the same time as she published this paper, cell biologists in the US were working on describing the function of the lamin proteins, creating knock out mouse models, where they identified subtle features of a muscular dystrophy. It was serendipitous that these two projects were happening in parallel, and led to great collaborations. This also shone a spotlight on the importance of the nuclear envelope in muscle disease, as well as the wide phenotypic spectrum of disease in the lamin gene. This continues to inspire the work she leads at INSERM. She enjoys the multidisciplinary collaborations from bench-to-bedside and back, which is facilitated by the structure of the Institut de Myologie.

Dr Bonne stands on stage at a WMS Congress

Dr. Gisèle Bonne giving welcoming remarks at the 22nd International Annual Congress of the World Muscle Society as Co-chair of the Local Organizing Committee!

Social media post with a pink background featuring Dr Bonne and her colleagues

Dr. Bonne and her team advocating for AFM Telethon, raising funds and awareness for Myology research towards the goal of treatments for those affected by muscle-related conditions!

Memorable mentors

During this conversation, one thing Dr. Bonne and I discussed was the influence of her mentors, especially Dr. Fardeau and Dr. Schwartz, who completely changed her life. It was only during the interview she realized that these are the two individuals who set up at the Institut de Myologie where she is a senior scientist today!

When she mentors or interviews new candidates for her lab, she always thinks back on her interview with Dr. Schwartz, still unsure of what Dr. Schwartz saw in the young Dr. Bonne to give her such an amazing opportunity. Dr. Bonne has learned that sometimes just a feeling when you meet a passionate young investigator is enough to give them an opportunity, just as Dr. Schwartz had given her after a brief meeting.

She also recalls her first time meeting a patient with autosomal dominant EDMD, being called into Dr. Fardeau’s office unexpectedly, and hearing him say to the patient “this is the researcher who will find out what you have.” While this comment made her nervous with expectation, she recognises it demonstrated the great confidence her mentor had in her work, and will always be appreciative of that. With her aspiration to model these mentors in her life, I can only imagine what a wonderful guide she is herself, leading a team of 15+ individuals at the Institut.

One piece of advice she gives to her mentees is to try and take all opportunities that come, especially if they are ones that motivate you and excite you, and once you commit to that opportunity, develop it and make the most of it. She reminded me that “your career is not a straight line” and “sometimes you realise some of these choices may not be the right ones for you, but that is alright”.

She continues to be excited about her work every day, thinking back on the time when she was writing the introduction of her PhD thesis when they were still only at the phase of describing myopathies and dystrophies with pure clinical syndromes, subsequently followed by the explosion of genetics and genomics which has rapidly revolutionised the field. She continues to be in awe of the rapidly expanding muscle gene table she curates every year, finds herself further recognising the importance of going back to clinical syndromes to better understand the genotypic-phenotypic spectrum of disease.

Dr Bonne is standing outdoors with Victor and three other colleagues. Victor is embracing Dr Bonne

Dr. Bonne out and about with Prof. Victor Dubowitz and other WMS members (left to right: Dr. Teresinha Evangelista, Dr. Alessandra Ferlini and Dr. Ros Quinlivan)

A women’s world

With International Women’s Day on March 8th, and as such an extraordinary academic leader in her field, we discussed a little about her take on being a woman in a male-dominated domain. Dr. Bonne feels she was very lucky that she never personally faced significant difficulties as a woman in research, especially working under other amazing women advocates in the field (such as Dr. Ketty Schwartz).

She learned from modeled behaviors of Dr. Schwartz, encouraged to promote and encourage women in the field as much as possible based on expertise, merit and talent (which she believes always comes before the gender of any given candidate). She herself has a predominantly female team.

Dr Bonne stands with two colleagues in front of a WMS poster display

At the poster sessions at WMS Congress 2019 in Copenhagen, Denmark (from left to right, Prof. Susana Quijano-Roy and Marta Gomez Garcia De La Banda) both collaborating with her team on congenital form of laminopathies)

She feels we are certainly making improvements from generation to generation in closing the gender gap in science, however there are certainly areas of the world where culture and context of a given social environment poses barriers to women ascending to leadership roles and academic excellence in the way she found she was able to. And we also discussed sometimes the lack of women especially in higher positions and ranks is based on personal choice.

She hopes the WMS board is able to recruit more female members going forward, and continues to encourage female colleagues every cycle to apply!

Having a fun time at the most recent WMS Congress in Halifax, Nova Scotia, Canada!

A personal touch

Despite her busy life as researcher, mentor and leader, Dr. Bonne loves getting outdoors and travel. When she spent time in Colorado, she picked up skiing as a hobby, going every weekend while she was there. When Dr. Kevin Flanigan invited her to visit Salt Lake City in the United States, skiing was high on the agenda.

Hiking is another favourite hobby and week long trips to the Alps would often feature daily six hour hikes. More recently she enjoys walking by the seaside during vacations in France with her family. She takes full advantage of the opportunity to travel for conferences too, recalling meeting Professor Victor Dubowitz in Antalya in Turkey during her first WMS conference, and his advice to always try to travel adjacent to each conference she attends. She is looking forward to doing some traveling in Spain when she goes for a conference she is helping organise for May of this year.

Gisele stands at the edge of the water in front of a small, round brick structure

Exploring Saint-Valery-sur Somme, a medieval city facing the Somme Bay where the river meets the ocean!

Gisele stands inside a square archway near the sea

Dr. Bonne exploring the Spanish Canary Islands. Pictured with a modern art sculpture on the pier at Garachico, Tenerife.

She enjoys immersing herself in the culture of new places she visits, especially trying the local food everywhere she goes. She is also a fan of visiting exhibitions and museums, even more locally, stating that Musee d’Orsay is one of her favorites to frequent during the weekends. She and her husband love discovering new street art as well, which she finds to be an amazing way to discover a city and learn more about the culture!

Street art of a girl sitting inside a brightly coloured umberella as fish fly over head

A picture of street art Dr. Bonne found in Paris created by an artist named Seth. Dr. Bonne finds his style very poetic. See more on his webpage.

I took much away from my conversation with Dr. Bonne, ranging from my re-discovered appreciation for the hard (and often underappreciated) work our basic science colleagues do daily, to the importance of actively pursuing the topics which excite you on a daily basis. I really appreciated her perspective on the role of mentorship in her journey, and the need to continually pursue and promote excellence in the work we do.

It was also nice to hear that literally jumping for joy at your own wins is something that even the “greats” in our field have done at least once or twice! Despite her busy schedule, I sincerely appreciate the time she took to share her story with me, and do hope to see her at the next WMS Congress in Charleston this year. And who knows, maybe one day I will get to see her dried-up acrylamide gel trophy in person!

-Ruchee Patel, MD (The Johns Hopkins University School of Medicine, Pediatric Neurology Resident PGY-5) 

Published on 7 March 2023.


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