The Foundation For Rare Diseases is organizing the first inter-regional scientific conference "From research to treatment in rare diseases" on April 9, 2021 in digital format.
It will take place on the Zoom platform.
This conference aims to present the networks and research projects in rare diseases conducted in the Western region, promoting sharing between actors. It was realized in collaboration with Prof. Sylvie Odent, CHU Rennes and Prof. Stéphane Bézieau, CHU Nantes.
Day organized with the support of Alnylam & Event organized in association with the Groupement de Coopération Sanitaire des Hôpitaux Universitaires du Grand Ouest (GCS Hugo)
Biochemical and functional evaluation of the dystrophin carboxy-terminal domain for micro-dystrophin gene therapy in cardiac and skeletal muscles in the DMDmdx rat model, led by Audrey Bourbon, Translational Gene Therapy Laboratory, University of Nantes, (INSERM UMR 1089)
Amount of support : 500 €.
Genetics of neural tube defects: new candidate genes and complex mode of inheritance, led by Dr Valérie Horvais, CHU de Nantes
Amount of support: 500 €.
Switch to the extended half-life Factor rFVIII-Fc for patients with severe Haemophilia A on prophylaxis in Western France: a real-life study, led by Dr Marie Faoucher, Laboratory of Molecular Genetics and Genomics, CHU of Rennes
Amount of support: 500 €
Exploring early neuronal interactions in the developing human intestine using iPSC-derived organoids: implications in Hirschsprung's disease, led by Elise Loffet, University of Nantes (Inserm UMR 1235 - TENS)
Amount of support: 500 €
08:30 - 08:45 Introduction
MrPhilippe El Saïr, Director of the Nantes University Hospital, administrator of the GCS HUGO
Prof. Jean-Louis Mandel, President of the Fondation Maladies
08:45 - 09:55
Session 1 - Medical genetics, from research to diagnosis
Session moderated by Prof. Sylvie Odent, Head of the Clinical Genetics Department, Coordinator of the Reference Center for Developmental Abnormalities and Malformative Syndromes of the West CLAD-Ouest, IGDR, UMR 6290 University of Rennes, CHU of Rennes
Pr Francis Couturaud, Head of the Department of Internal Medicine, Vascular Medicine and Pneumology, Director EA3878-GETBO, CHRU Brest and Mrs Lénaïck Gourhant, CHRU Brest, engineer EA3878-GETBO
Project: Extending identification of new inherited thrombophilia in selected families
Dr Pascale Quignon, Researcher, Institute of Genetics and Development of Rennes, UMR6290-CNRS/University Rennes1
Project: Whole genome sequencing of dogs affected by idiopathic epilepsy as genetic models for human epilepsies
Prof. Isabelle Pellier, Head of the Pediatric Hematology/Oncology Unit - Angers University Hospital
Exocare project: Exome search for new predisposition genes for rare cancers in children
Pr Pascal Reynier, Director of the Department of Biochemistry and Genetics, Reference Center for Neurogenetic Diseases, CHU of Angers
Approaches in Metabolomics
Pr Sylvie Odent & Pr Stéphane Bézieau, Head of the medical genetics department, President of the French Federation of Human Genetics, molecular genetics laboratory, Nantes University Hospital
Activities of the Gem-Excell network (network of excellence in genetics and genomics) HUGO RD, PORTAIL, Structural variants projects
Session 2 - GCS HUGO & Foundation For Rare Diseases Awarded Projects
Session moderated by Dr Guy Lenaers , Director of MitoLab, mitochondrial pathophysiologyUniversity of Angers
Pr Laurent Plantier, CEPR/Inserm UMR1100, CHRU de Tours
Project: Low-Frequency Intrapulmonary Percussive Ventilation IncreasesAerosol Penetration in a 2-Compartment Physical Model of Fibrotic Lung Disease
Pr Jean-Baptiste Gourraud, Institute of Thorax Cardiology CHU Nantes HGRL
Project: CIQTP prolongation: role and mechanism in sudden cardiac death
Pr Dominique Bonneau, National Reference Center for Neurogenetic Diseases, CHU Angers
Project: "Multi-omics and IPSc to reduce the diagnostic impasse: the MIDRID and PRIOMICS projects
10:40 - 10:50 Break
10:50 - 11:20
Session 3 - Round table: Mobilizing private funding to support research
Session moderated by Ms Anne-Sophie BlancherHead of the Communication and Partnership Department, Foundation For Rare Diseases
Ms. Céline Darguesse, Communication and Sponsorship Officer, Groupama Loire Bretagne
Dr. Patrick Maurel, Scientific Director, Head of Rare Diseases for the Kiwanis France-Monaco District
Ms. Véronique Meunier, Sponsorship Manager, Nantes University Hospital Endowment Fund
Ms Christine Trémolières, Director of Communications, CIC Ouest
11h25 - 12h15
Session 4 - Human and Social Sciences at the service of rare diseases
Session moderated by Pr Guy Minguet, Professor of Sociology, ITM Atlantique Nantes
Dr Céline Lancelot, Researcher, Laboratoire de Psychologie des Pays de la Loire, EA 4638, University of Angers
Project: To better understand the social and emotional functioning and emotional functioning of young girls with Turner syndrome to better support them
Mrs Cécile Foujols, Regional Delegate for the Pays de la Loire, Rare Disease Alliance
The actions of the Rare Disease Alliance
Dr Laurent Pasquier, Coordinator of the Reference Center for Intellectual Disabilities of Rare Causes (CRDI), CHU of Rennes
Ethics and genetics
12:15pm - 1:15pm Lunch break
1:20 - 2:15 pm
Session 5 - Therapeutic approaches: from basic research to treatment
13:20-13:40 - PART 1: siRNA and genetic transthyretin amyloidosise
Session moderated by Pr Daniel Scherman, Director of the Rare Diseases Foundation
Pr Yann Péréon, Coordinator of the Nantes site - Atlantic, Occitanian and Caribbean Neuromuscular Disease Reference Center (AOC)
New therapeutics in transthyretin genetic amyloidosis
1:45-2:15 pm - PART 2 : Genetic therapies and modulatory treatments
Session moderated by Pr Sandra Mercier, Clinical Geneticist, Medical Genetics Department, Developmental Anomalies Reference Center, Neuromuscular Diseases Reference Center, CHU Hôtel Dieu Nantes, Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291, University of Nantes
Dr Oumeya Adjali, Director of the Laboratory for Translational Gene Therapy of Genetic Diseases, Head of the team "Immunology of gene transfer using AAV", INSERM UMR 1089, Nantes
Approaches in gene therapy
Dr Sophie Ramel, Medical coordinator of the MUCO OUEST network - Head of the CRCM in Roscoff
Mucoviscidosis: focus on the so-called modulating treatments
14h20 - 15h00
Session 6 - Round table: From invention to innovation: objective of valorization
Session moderated by Dr Christine Fétro, National Manager of research and industrial partnerships (Club POC), Foundation For Rare Diseases
Dr Christophe Dombu, Analyst Portzamparc , BNP Paribas Group
Dr Guillaume Mabilleau, Director of the Study Group on Bone Remodeling and Materials (GEROM) UPRES EA 4658 - University of Angers
Dr Franck Mouthon, President of France Biotech, CEO Theranexus
Dr Tuan Huy Nguyen, CEO Goliver Therapeutics
Dr Elise Petit Rodat, Thematic Project Manager, SATT Ouest Valorisation
15:05 - 16:30
Session 7 - Cooperating across disciplines and borders
Session led by Prof. Christophe Aubé, Coordinator of the GIRCI GO, supported by the GCS HUGO
15h05-15h45 - PART 1 : Channel, networks, platforms
Pr Christophe Verny, Coordinator of the Reference Centers for Rare Neurogenetic Diseases and Huntington's Disease. Coordinator of the BRAIN-TEAM rare disease health network (rare central nervous system pathologies), Angers University Hospital
Rare disease health networks: the BRAIN-TEAM network
Ms Anne Prestel, Regional Coordinator of the Brittany andPays de LoireExpertise Platforms MrMathieu Ferte, Coordinator of PRIOR
The Brittany and Pays de Loire Rare Disease Expertise Platforms
Dr Laurent David, Head of the iPSC platform, University of Nantes
iPSC Nantes & Rare Diseases Platform
15h50-16h30 - PART 2 : Rare diseases within the GCS HUGO investigator networks
Pr Régis Hankard, Coordinator of PEDSTART Inserm-FCRIN, The French Paediatric Clinical Research Network, CHU Tours
HUGOPEREN: Hôpitaux Universitaires du Grand Ouest -PEdiatric REsearch Network- focus on rare disease activities and collaborations (Orphandev and Fimatho)
Pr Ludovic Martin, IDGO coordinator, referent site for the reference center for rare skin and mucous membrane diseases of genetic origin, CHU Angers
IDGO : Institut de Dermatologie du Grand Ouest , Focus on transdisciplinary approaches
Pr Alain Saraux, CHRU Brest
VICTOR HUGO : InnoVatIon In osteOaRticular ReCeARCH
16:30 - 16:40 Break
Session 8- Rare diseases and COVID-19
Session moderated by Pr Stéphane Bézieau, Head of the Medical Genetics Department, President of the French Federation of Human Genetics, Molecular Genetics Laboratory, Nantes University Hospital
Pr Jean-Laurent Casanova, Head, St. Giles Laboratory of Human Genetics of Infectious Diseases, Senior Attending Physician, The Rockefeller University Hospital, Visiting Professor, Necker Hospital and School of Medicine, University Paris Descartes
Genetic and immunological causes of life-threatening COVID-19
17:30 - Conclusion and announcement of the prizes Poster in partnership with Groupama Loire Bretagne
Pr Sylvie Odent, Pr Stéphane Bézieau and Pr Daniel Scherman
The poster communications will be selected under the aegis of a scientific committee. Poster prizes will be awarded to the selected research teams at the end of the conference with the support of Groupama Loire Bretagne.
Click on the poster number to view it.
"Biochemical and functional evaluation of the dystrophin carboxy-terminal domain for micro-dystrophin gene therapy in cardiac and skeletal muscles in the DMDmdx rat model" Bourdon A. et al.
"The Abnormal Accumulation of Heparan Sulfate in Patients with Mucopolysaccharidosis prevents the Elastolytic Activity of Cathepsin V" Chazeirat T., Lecaille F. et al.
"Study of the intestinal microbiota in twenty patients with pseudoxanthoma elasticum" Berard M.et al.
"A severe contractile function impairment of the hindlimb and diaphragm muscles in the dystrophin-deficient Dmdmdx rat model" Lafoux A. Huchet C. et al.
"Functional Exploration of the Pathological Role of Rare Genetic Variants (EPIQUE)" Gilot D. et al.
"Switch to the extended half-life Factor rFVIII-Fc for patients with severe Haemophilia A on prophylaxis in Western France: a real-life study " Horvais V. Trossaërt M. et al.
"Molecular engineering of microglia" Morival C. et al.
"Assessment of TRPC1 and TRPC3 as potential therapeutic targets for DMD treatment in complement to rAAV-microDystrophin gene therapy" Creisméas A. et al.
"Involvement of a variant of the RPL13 protein in the development of a new form of spondylo-epi-metaphyseal dysplasia" Orgebin E. Baud'huin M. et al.
"Arsenic trioxide inhibits the functions of lung fibroblasts derived from patients with idiopathic pulmonary fibrosis" Joannes A.et al.
"Genetics of neural tube defects: involvement of primary cilium, cell planar polarity, and extracellular matrix genes, and strengthening the oligogenic hypothesis" Faoucher M. et al.
"Muscle genetic diseases in the age of transcriptomics" Dupont JB et al.
"A new syndrome redraws old boundaries" Ardois S. et al.
"A new syndrome redraws old boundaries" Ardois S. et al.
"Effects of Janus kinase (Jak) inhibitors on macrophage polarization in a mouse model of systemic sclerosis" Lescoat A., Ballerie A. Lecureur V. et al.
"Disorders of behavioral and emotional regulation in Huntington's disease: A multifactorial approach to apathy." Matmati J, et al.
"Role of V0-ATPase in epithelial polarity in the gut: from C. elegans to mouse and then to a rare disease." Bidaux-Meynard A, Michaux G. et al.
"Intellectual disability and research: from diagnosis to treatment" Des Portes V. et al.
"Exploring early neuronal Exploring early neuronal interactions in the developing human intestine using iPSC-derived organoids: implications in Hirschsprung's disease" Loffet E. Mahe M. et al.
♦Pr Sylvie Odent Head of the Clinical Genetics Service, Coordinator of the Reference Center Developmental abnormalities and malformative syndromes of the West CLAD-West, Institute of Genetics and Development of Rennes IGDR,
UMR 6290 University of Rennes, Hospital SUD CHU Rennes.
♦ Prof. Stéphane Bézieau Head of the medical genetics department, President of the
French Federation of Human Genetics,molecular genetics laboratory, CHU Hotel-Dieu Nantes
♦ Dr. Oumeya Adjali Director of the Laboratory of Translational Gene Therapy
of Genetic Diseases, Head of team "Immunology of gene transfer
using AAV", INSERM UMR 1089, Nantes
♦ Pr Dominique Bonneau Coordinator of the National Reference Center on
neurogenetic diseases, Department of Biochemistry and Genetics, Mitovasc INSERM 1083, CNRS 6015, CHU of Angers
♦ Prof. Claude Ferec PUPH UMR 1078 Laboratory "Genetics, functional genomics and biotechnologies", Brest
♦ Dr. Guy Lenaers Director of MitoLab mitochondrial pathophysiology, University of Angers
♦ Pr Guy Minguet Professor of Sociology, IMT Atlantique Nantes
♦ Pr Yann Péréon Coordinator constitutive site of Nantes- Reference center
Neuromuscular diseases Atlantic, Occitania, Caribbean (AOC).
♦ Dr. Sylviane Peudenier Head of the Reference Center for Learning Disorders
Head of the Reference Center for Intellectual Deficiencies of Rare Causes and Polyhandicap, CHRU de Brest
♦ Pr Laurent Plantier CEPR/Inserm UMR1100, CHRU of Tours
♦ Prof. Annick Toutain Head of the Genetics Department of the CHU of Tours, Coordinator of the Reference Center for Rare Diseases 'Developmental Anomalies'; Coordinator of the Competence Center for Rare Diseases 'Intellectual Deficiencies of Rare Causes'; and 'Genetic Deafness'
♦ Pr Christophe Verny Coordinator of the Rare Disease Reference Centers
neurogenetic and Huntington. Coordinator of the BRAIN-TEAM Rare Diseases Health Network (rare central nervous system pathologies), Angers University Hospital
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