Mario Pende

Mario Pende (PhD) leads the team for “Cell growth control by nutrients” within Inserm Unit 1151/CNRS/Université de Paris, at the Institut Necker-Enfants malades (Paris). After his PhD in the George Thomas laboratory (Friedrich Miescher Institute, Basel, Switzerland), Mario Pende was awarded the Inserm Avenir contract in 2002, followed by the European Research Council starting grant award in 2008 and European Research Council consolidator grant award in 2013. He received several awards, including the Schlumberger Foundation and the Labbé price from the Academie des Sciences. He has been interested during the last 15 years in how nutritional cues are transduced in the cell through the PI3KCA/mTOR/Akt pathway to impact growth responses, including cell size, cell proliferation, senescence, survival, protein synthesis, and metabolism.

Role in RHU COSY

Mario Pende will work, in collaboration with the project lead, on the identification of pathogenic mechanisms of Overgrowth syndromes (OS) to offer precision and personalized medicine (WP3).

The Clinical Research Unit (Inserm) manages sponsor activities for the clinical trials of which Inserm is a sponsor. It is involved in leading and coordinating the Clinical Investigation Centers (CIC) which ensure that medical scientific data are generated under optimum quality and safety conditions. It also represents Inserm in the F-CRIN project, an “Investments for the Future” clinical research infrastructure. In addition, this group manages Inserm’s relationship with the competent authorities as the French medicament agency (ANSM) or the French data protection authority, CNIL. The team supports about 80 new studies by year in which around 10% of international studies.

Hélène Espérou

Hélène Espérou (MD, PhD) is currently the head of the Clinical Research Unit at INSERM. She holds a DEA in health economics “Hospital care systems”. She is a hematologist and exerted for 18 years at the hôpital St Louis (AP-HP), having left the clinical activity in 2006 to join several health institutions. She was part of Roselyne Bachelot-Narquin’s cabinet, former French health minister. Throughout her career, she has maintained a strong relationship with the clinical research field.

Role in RHU COSY

Hélène Espérou collaboration will aid in creating an Overgrowth syndromes registry.

The Clinical Investigation Centres (CIC) are clinical research infrastructures in hospitals, available to investigators and researchers, to carry out clinical and health research projects. The CICs have staff and premises entirely dedicated to clinical research. The CIC also participate in projects that aim for a better understanding of diseases and evaluating new treatments.

Pr Jean-Marc Trelyuer

Role in RHU COSY

The CIC has a key role in building up the French National Overgrowth syndromes registry.

The Institut du Cerveau is a translational neuroscience institute, located at the Pitié-Salpêtrière Hospital in Paris, that brings together patients, doctors, and researchers with the aim of developing treatments for disorders of the nervous system and promptly make them accessible to patients.

Stéphanie Baulac

Stéphanie Baulac, Inserm research directoris and head of the research team, is also “genetics and physiopathology of epilepsies” at the ICM and scientific director of the ICM sequencing core facility (iGenSeq). She is an expert on the genetics of epilepsies and brain malformations of cortical development and is one of the pioneers identifying mutations in the mTOR pathway genes in focal epilepsies (DEPDC5 gene) and somatic variants in cortical malformations of the development. She has obtained the prestigious European Research Council consolidator grant (2015) and obtained the 2019 international Epileptology prize (Michael Prize). She coordinates a research network with neurologists, neuropediatricians, and neurosurgeons to study human epileptic brain tissues.

Role in RHU COSY

As an expert in brain somatic mutations, Stéphanie Baulac leads the WP2, participates in the centralization of molecular diagnosis at the ICM for all patients with brain involvement (WP5) as well as in functional studies related to the mTOR pathway (WP3).

Necker Enfants Malades Hospital belongs to the Assistance Publique – Hôpitaux de Paris (AP-HP) which is a public health establishment and the largest teaching hospital system in Europe. Necker Hospital provides a range of medical specialties and pediatric surgeries, a pediatric emergency reception service, a type 3 maternity, and highly specialized adult services. It is a referral hospital for the treatment of heavy and complex pathologies and an essential player in the management of rare diseases, chronic diseases, and disabilities. The hospital has 35 teams involved in 16 European Reference Networks (ERN) including the ERN SKIN which is coordinated at Necker.

Nadia Bahi-Buisson

Nadia Bahi-Buisson (MD, PhD) is a professor at the Department of Pediatric Neurology, Necker Enfants Malades hospital. Researcher at the Imagine Institute INSERM UMR-1163 Paris Descartes University, Paris. She coordinates a group of research on megalencephaly with a Postdoc and 2 PhD students. The focus of her clinical and research studies are megalencephalies, diagnosis and natural history from fetal/prenatal diagnosis to childhood, consequences on neurodevelopment; she also has relevant experience in neurofoetopathology and imaging techniques. She coordinates one of the largest databases for cortical malformations and interacts with the only molecular diagnosis lab for megalencephalies in France.

Role in RHU COSY

Nadia Bahi-Buisson, sponsored by AP-HP, will be highly engaged leading WP4 and WP5. She will be responsible for establishing local coordination of care and a system to follow up patients with PIK3CA-Related Overgrowth Syndrome (WP4), and for creating 4 multidisciplinary expert centers in France to provide the best care to Overgrowth syndromes (OS) patients (WP5).

As a researcher at the Imagine Institute INSERM UMR-1163, Dr Bahi-Buisson will be involved in WP2, specifically, in the development of in vitro tests to assess the pathogenicity of new variants in genes belonging to the mTOR pathway as well as in the development of OS cellular models and drug screening (WP3).

URC Eco founded in 2007 and currently under the direction of Professor Isabelle Durand-Zaleski, is a publicly-funded research and knowledge unit that is part of the AP-HP consortium. URC Eco’s primary mission is to inform the decision-making process of stakeholders in the health care system, including policymakers, institutions, and professionals in the areas of health economics, health services research, and health policy analysis.

Isabelle Durand-Zaleski

Isabelle Durand-Zaleski is a medical doctor and Professor in Public Health. She is currently the head of the Paris Health Economics and Health Services Research Unit. She carried out her PhD research in economics and management at Paris IX University, France. She holds a Masters in Public Health from Harvard University, Cambridge, MA, USA, and a diploma from the Political Study Institute of Paris (Institut d’Etudes Politiques de Paris). She has been the head of the Evaluation Department in the National Health Authority.

Role in RHU COSY

Isabelle Durand-Zaleski assignment will be to address the cost analysis of the project, in WP7.

La Suite-Necker is an innovative program for teenagers and young adults with rare chronic diseases followed up at Necker-Enfants Malades hospital (AP-HP, Paris, France) and transitioning from pediatric care to adult care. La Suite-Necker, which includes a dedicated ward at Necker hospital, website and mobile app, offers to adolescents the possibility to meet not only medical professionals (dermatologists, gynecologists …) but also social workers, estheticians, hairdresser, and so on, that are dedicated support them during this phase and help them in enhancing their self-esteem, quality of life and gaining autonomy in their healthcare.

Nizar Mahlaoui

Nizar Mahlaoui (MD, MPH, PhD) is a full-time pediatrician at Necker-Enfants Malades hospital (AP-HP). He coordinates the French National Reference Center for Primary Immune Deficiencies (CEREDIH). He is also a member of the Scientific Council of the French Association for patients with primary immunodeficiencies (IRIS), Chair of the European Society for Immunodeficiencies (ESID), and Chair of the Medical Board of the International Patient Organisation for Primary Immunodeficiencies (IPOPI). He is the funder and medical director of “La Suite”, the Rare Diseases and Chronic Diseases innovative Transition Program Necker Enfants Malades hospital (for which he was awarded with the Prix galien in Dec. 2019).

Role in RHU COSY

With the purpose of improving Overgrowth syndromes (OS) patients’ socialization, La suite, headed by Dr Mahlaoui, will be implemented to the different expert centers (WP7).

Hospices Civils de Lyon (HCL) is the 2nd university hospital center in France with 14 establishments (including 3 generalist establishments, 7 specialized establishments and 4 geriatric establishments) that encompasses a wide range of human, technical and logistical means to carry out their care, teaching, research, medical innovation, prevention and health education. Additionally, HCL is involved in the treatment of childhood cancers (IHOPe), in partnership with the Léon Bérard Center.

Laurent Guibaud

Laurent Guibaud (MD) is a national radiologist expert in superficial vascular lesions and Overgrowth syndromes (OS) and is the coordinator of the multidisciplinary consultation for superficial vascular anomalies at the CHU of LYON. He is the founder of the “Journée Riche-Enjolras”, who is an annual meeting of the French multidisciplinary teams in charge of vascular anomalies. He was involved in many national and international studies related to the diagnosis and treatment of superficial vascular lesions.

Role in RHU COSY

The WP6 leader, Laurent Guibaud, will provide advice and expertise, as necessary, to transform the radiological diagnosis and follow up of OS patients.

Imagine’s genomics core facility provides high-throughput genotyping, sequencing and gene expression services to the Necker research community. Experimental design, analysis and interpretation of results are performed on an interactive basis with investigators and the bioinformatics facility (Institut Imagine/Paris Descartes University).

Christine Bôle-Feysot

Christine Bôle-Feysot (PhD) is the genomic plate-form manager at the Imagine’s genomics core facility. She carried out her PhD research in molecular endocrinology at Paris Sud XI University. She is an expert in next generation sequencing and DNA microarrays.

Role in RHU COSY

Christine Bôle-Feysot and her team will be undertaking the deep exome analysis as well as the panel diagnostic (WP2).

The Foundation for Rare Diseases (FFRD) is a non-profit organization of scientific cooperation. Its mission is to accelerate research for all rare diseases by supporting research and researchers. The granted projects concern decrypting diseases, assisting in diagnosis by identifying the cause of diseases, helping to develop new treatments, and improving daily rare disease patient and family life.

FFRD acts as a federative hub to fund research and accelerate scientific, clinical, and social innovation by stimulating cross-sector cooperation towards effective healthcare to the benefit of RD patients.

Prof. Daniel Scherman

Prof. Daniel Scherman is the FFRD Director since 2017. He has been elected chairman of the Health and Medicine Committee of EURASC, European Academy of Sciences. He received several awards, Main Prize of the French National Academy of Sciences – Emilia Valori Prize for the Applications of Sciences, Experimental Uveitis Research Award – Deutsche Uveitis Arbeitsgemeinschaft, and prize of the French National Academy of Medicine. His main discoveries and issued and developed patents concern gene delivery vectors, including chemical vectors and electroporation delivery methods, biosafe miniplasmids for gene therapy, plasmid purification techniques, and bioimaging.

Role in RHU COSY

In the WP8 of which the FFRD is the leader, Anne-Sophie Blancher, Communication and partnership manager, will have a central role in the communication and dissemination of RHU COSY findings : website, workshops …

In the WP7-3, Diana Désir-Parseille, Research administration manager will focus the 9th edition of the Social sciences and Humanities (SSH) annual call for research proposals of the FFRD on Overgrowth syndromes (OS), to allow better understanding of individual, familial and psychosocial consequences of OS and to improve care and everyday life of patients and their families.

The Association Syndrome Cloves was created by the parents of a sick children, with the aim of bringing together affected patients and help them to share their experiences, providing information on this disease and raising funds for research.

Anne-Sophie Lefeuvre

Role in RHU COSY

Anne-Sophie Lefeuvre, president of the association, participates as a consultant in the conception of communication media.