Sophie NICOLE PhD Human genetics

Course and current status

Professional status

Chargée de recherche (research assistant), Inserm (National Institute of Health and Medical Research), France


Professional address 

Brain and Spine Institute (ICM)

Neurogenetics and Physiology team

Pitié-Salpêtrière Hospital

Paris, France



Human genetics, human diseases, neuromuscular excitability, mouse models, basement membrane, neuromuscular junction, ion channels, skeletal muscle.


Main research activities

Genetic basis of orphan diseases with abnormal membrane excitability (neuromuscular junction diseases, muscle channelopathies and related, alternating hemiplegia of childhood)

Pathophysiology studies in vitro (cells) and in vivo (mouse models) of human neuromuscular disorders

Development and management of human DNA and cell banks (Schwartz-Jampel syndrome, alternating hemiplegia of childhood, congenital myasthenic syndromes)


Management activities

Principal investigator since 2002

Team leader since 2014

Reviewing of research project grants (AFM, Wellcome Trust) and manuscripts (Neuromuscular disorders, Orphanet Journal of Rare Diseases, Human Mutation)

Elected member of the research center council.

Member of the pedagogical committee of the doctoral school “Brain, comportment and cognition”, Universities “Pierre et Marie Curie”and “René Descartes” from 2009 to 2013.

Referent for health and safety and in research laboratories from 2002 to 2009.



2009             Senior price, Association for the research on paediatric diseases 

2006-2011    Consultant in genetics for the Department of Neurology, Pitié-Salpêtrière hospital

1999             Post-doctoral fellowship of the French Association for myopathies

1998             Fellowship of the French Academy of Medicine

1995-1998    Fellowship of the French Ministry of Research



Since 2009  Research Associate - INSERM U975, Research centre of the brain and spine institute (Dr Bernard ZALC), Paris, France.

2002-2008    Research associate - INSERM U546, Research unit of the myelin and muscle ion channel disorders (Dr A Baron and Pr B Fontaine), Paris, France.

2002-2000    Post-doctoral researcher - INSERM E9913, Research unit of molecular neurogenetics (Dr J. Melki), Evry, France.

1999-2000    Post-doctoral researcher - INSERM CJF9711, Research unit of myelin diseases (Dr A Baron), Paris, France. 

1995-1999    PhD student - INSERM U134, Research unit of cellular, molecular and clinical neurobiology (Dr N. Baumann), Paris, France.

Scientific summary

I hold a PhD in Human Genetics from the Pierre and Marie Curie University (Paris VI) and performed a post-doctorat on neurophysiology at the Genopole, Evry. I became a research associate at Inserm (the French NIH) in 2002. I has been a consultant in Genetics for the Department of Neurology at Pitié-Salpêtrière and received the senior prize from the Association for the research on pediatric diseases in 2010. I'm now co-leader of the “Neurogenetics and Physiology” team at the ICM where I pilots research projects on neuromuscular excitability and related disorders in close relationship with the French national reference centers on “muscle channelopathies and related pathologies” (Neurology department, Pitié-Salpêtrière hospital) and on “neuromuscular diseases, Paris east” (Myology Institute, Pitié-Salpêtrière hospital).

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