Main investigators

INSERM UMR1163

 ALAIN2

Alain Hovnanian

Service de Génétique,

INSERM UMR 1163

Laboratoire des Maladies génétiques cutanées
Université Paris Descartes - Sorbonne Paris Cité,
Institut Imagine
24 boulevard du Montparnasse
75015 Paris

France

Phone:  +33 1 42 75 42 89

Fax : 

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Background

Alain Hovnanian, MD, PhD, is Professor of Medical Genetics and Director of an INSERM department (U781) on « Genetic skin diseases: molecular bases and therapeutic approaches » at the Necker Enfants Malades Hospital in Paris, France. He qualified in Medicine in 1983 in Paris, and trained in Dermatology and in Genetics in Paris. From 1994 to 2000, he has headed a research group on inherited skin diseases at Oxford University. In 2000, he moved to Toulouse where he became full professor and headed an INSERM department (U563) on « Functional Genetics of Epithelial diseases ». The focus of Prof. Hovnanian’s group is the genetic investigation and treatment of severe inherited skin disorders, with a specific emphasis on recessive dystrophic epidermolysis bullosa (RDEB). Prof. Hovnanian identified the gene for RDEB in 1993, and his group has since developed the molecular diagnosis and the scientific tools to develop ex vivo gene therapy for RDEB. He has internationally recognised expertise in the field of RDEB and has access to a large population of patients that he sees regularly at his clinic. Recently his group has successfully corrected a keratinocyte cell line from a RDEB patient by genetic transfer of the COL7A1 gene, and is actively involved in the genetic correction of the disease using COL7A1-expressing retroviral and lentiviral vectors. His groups obtained in March 2009 the orphan drug designation for the Medicinal product: “Skin equivalent graft genetically corrected with a COL7A1-encoding SIN retroviral vector” (EU/3/09/630) by the European Medicines Agency (E.M.A.). This new investigational medicinal product was developed in the context of the previous European THERAPEUSKIN project.

Aside from RDEB, his main interests are to establish the genetic basis of inherited skin diseases, and his group has recently identified the genes for Darier’s disease (OMIM #124200) and for Netherton syndrome (OMIM #256500).

 

Matthias Titeux

Université Paris - Descartes

Inserm U781 

C.H.U. - 7ème étage

156 rue de Vaugirard - 75730 PARIS cedex 15

Phone : +33 (0)1 40 61 56 96  

Fax : +33 (0)1 71 19 64 20

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Background

Matthias Titeux, is a full time researcher at Inserm (U781) specialized in gene therapy for inherited skin diseases. He was trained in retro- and lenti-virology at Institut Pasteur, Paris, and in Genethon, Evry, in Dr O. Danos’ department. He has gained considerable experience in the field of ex vivo gene therapy using retro- and lenti-viral vectors applied to skin diseases. He has successfully designed and produced a retroviral virus containing a functional copy of the COL7A1 cDNA. He was able to show genetic correction of primary RDEB keratinocytes following transduction with the COL7A1-expressing retroviral vector, and to show no reduction in their growth capability.

 

 

Key publications

 

  1. Titeux M, Pendaries V, Zanta-Boussif MA, Décha A, Pironon N, Tonasso L, Mejia JE, Brice A, Danos O and Hovnanian A. Self Inactivating retroviral vectors expressing type VII collagen under human promoters for ex vivo gene therapy of recessive dystrophic epidermolysis bullosa. Mol Ther. 2010.Aug;18(8):1509-18.
  2. Titeux M, Pendaries V, Zanta-Boussif MA, Décha A, Pironon N, Tonasso L, Mejia JE, Brice A, Danos O and Hovnanian A. Self Inactivating retroviral vectors expressing type VII collagen under human promoters for ex vivo gene therapy of recessive dystrophic epidermolysis bullosa. Mol Ther. 2010.Aug;18(8):1509-18.
  3. Pendaries V, Gasc G, Titeux M, Leroux C, Vitezica ZG, Mejia JE, Decha A, Loiseau P, Bodemer C, Prost-Squarcioni, Hovnanian A. Immune reactivity to type VII collagen: implications for gene therapy of recessive dystrophic epidermolysis bullosa. Gene Therapy 2010 Jul;17(7):930-7.
  4. Briot A, Deraison C, Lacroix M, Bonnart C, Robin A, Besson C, Dubus P, Hovnanian A. Kallikrein 5 induces atopic dermatitis-like lesions through PAR2-mediated thymic stromal lymphopoietin expression in Netherton syndrome. J Exp Med. 2009, 206(5):1135-47.
  5. Titeux M, Pendaries V, Tonasso L, Decha A, Bodemer C, Hovnanian A. A frequent functional SNP in the MMP-1 promoter is associated with a higher disease severity in Recessive Dystrophic Epidermolysis Bullosa. Hum Mutat, 2008, 29 : 267-76.
  6. Titeux M, Pendaries V, Tonasso L, Decha A, Bodemer C, Hovnanian A. A frequent functional SNP in the MMP-1 promoter is associated with a higher disease severity in Recessive Dystrophic Epidermolysis Bullosa. Hum Mutat, 2008, 29 : 267-76.

 

 

 

NECKER ENFANTS MALADES HOSPITAL

Department of Dermatology

 

GENEGRAFT Website_March2011_html_m236f21db

Christine Bodemer

Centre de Référence des Maladies Génétiques à Expression Cutanée MA.G.E.C.

Service de Dermatologie

Hôpital NECKER ENFANTS MALADES

149 Rue de Sèvres

75743 PARIS CEDEX 15

France

Phone: +33 (0)1 44 49 46 72

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Background

Christine Bodemer is a Professor of Dermatology at the University of Paris V and the Necker-Enfants Malades Hospital. Dr. Bodemer is the Coordinator of the French Centre for Genetic Skin Diseases, Centre de reference sur les Maladies Génétiques à Expression Cutanée (MAGEC) at the Hôpital Necker-Enfants Malades in Paris and has great experience in the clinical management of EB in children and neonates. Her clinical research work focuses on genetic skin diseases (ichtyosis, epidermolysis bullosa, ectodermal dysplasia), genetic metabolic and energetic diseases (acidurias, cytopathy), and immune diseases (alopecia areata, scleroderma. She is the coordinator of the French network for EB research since 2004 allowing for patient recruitment and the establishment of a French Epidermolysis Bullosa Register.

 

Key publications

  1. Bodemer Christine; Epidermolysis bullosa in France: management in the National Reference Center for Genodermatosis. Dermatologic clinics 2010;28(2):401-3
  2. Bodemer C, Tchen SI, Ghomrasseni, S, Seguier S, Gaultier F, Fraitag S, de Prost Y, Godeau G. Skin expression of metalloproteinases and tissue inhibitor of metalloproteinases in sibling patients with recessive dystrophic epidermolysis and intrafamilial phenotypic variation. J Invest Dermatol. 2003;121:273-9.

 

 c. Surgery

 

GENEGRAFT Website_March2011_html_4f24a514

Stéphane Guero

Hôpital NECKER ENFANTS MALADES

149 rue de Sèvres

75743 Paris cedex 15

France

 

 

 

Background

Stéphane Guero, MD, PhD, specializes in plastic and reconstructive surgery. He has great experience in the management of patients with severe extensive burns involving skin grafts. He works in the French Institute of Hand Surgery in Paris, and he is a consultant surgeon in hand plastic surgery at NEMH. He is one of the important specialists in the EB group at Necker Enfants Malades Hospital and takes part to the surgical management of finger contractures in RDEB children.

 

 

KING’S COLLEGE LONDON

 

 

GENEGRAFT Website_March2011_html_7576949f

 

John McGrath

St John's Institute of Dermatology
9th Floor, Tower Wing
Guy's Hospital
Great Maze Pond
London
SE1 9RT
UK

 

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Background

Professor of Molecular Dermatology, he heads the Genetic Skin Disease Group. He is also an honorary Consultant Dermatologist for the Guy’s and St Thomas’ NHS Foundation Trust.
John McGrath is qualified from Guy’s Hospital in 1985 and trained in dermatology and dermatopathology at St John’s Institute of Dermatology in London. His research background is in electron microscopy and molecular biology.

He was recently nominated as President of the European Society for Dermatological Research and currently serves on the editorial board of 9 international journals, including being the section editor for genetics for the Journal of Investigative Dermatology.

 

Key Publications:

    1. Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen. Martins VL et al. Journal of Cell Science 2009; 122: 1788-1799.

 

    1. The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB. Fine JD et al.  The Journal of the American Academy of Dermatology 2008; 58: 931-950.

 

    1. Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. Wong T et al. Journal of Investigative Dermatology 2008; 128: 2179-2189.

 

    1. Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. Pourreyron C et al. Journal of Investigative Dermatology 2007; 127: 2438-2444.

 

  1. Epidermolysis Bullosa. McGrath JA and Mellerio JE. Hospital Medicine 2006; 67: 188-191.

 

 

EUFETS

 

GENEGRAFT Website_March2011_html_m7440f049

  

Klaus Kühlcke

EUFETS GmbH

Vollmersbachstr. 66

55743 Idar-Oberstein

Germany

Phone: +49 (0) 6781 9855-219

Fax: +49 (0) 6781 9855-237

 

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Background

Klaus Kühlcke presently holds the position of Managing Director at EUFETS GmbH in Idar-Oberstein, Germany. EUFETS, a subsidary of the BioNTech AG in Mainz, Germany, establishes manufacturing processes and analytical capacities for cancer vaccines developed by the mother company and provides contract manufacturing and analytical services for cell- and gene therapy. Dr. Kühlcke has been with the company since its foundation in 1997. He was instrumental in setting up processes for the GMP compliant production of retroviral vectors for clinical applications and for the genetic modification of blood cells for clinical trials. He has held the position of “Qualified Person”, “Scientific Director” and “Vice President Operations” at EUFETS. Prior to joining the company Dr. Kühlcke worked as a post doc at the Heinrich-Pette-Institut in Hamburg, Germany where he focused on the use of retroviral vectors as tools for basic and applied science. He received his Ph.D. for Biology in 1995 from Hamburg University.

 

 

Key publications:

  1. Boztug K, Schmidt M, Schwarzer A, Banerjee PP, Díez IA, Dewey RA, Böhm M, Nowrouzi A, Ball CR, Glimm H, Naundorf S, Kühlcke K, Blasczyk R, Kondratenko I, Maródi L, Orange JS, von Kalle C, Klein C. (2010) Stem cell gene therapy of the Wiskott-Aldrich syndrome New Engl J Med 363, 191-27
  2. Loew R, Meyer Y, Kuehlcke K, Gama-Norton L, Wirth D, Hauser H, Stein S, Grez M, Thornhill S, Thrasher A, Baum C, Schambach S. (2010) A new PG13-based packaging cell line for stable production of clinical grade self inactivating gamma-retroviral vectors using targeted integration Gene Ther.  17, 272-280
  3. Stein S, Ott MG, Schultze-Strasser S, Jauch A, Burwinkel B, Kinner A, Schmidt M, Krämer A, Schwäble J, Glimm H, Koehl U, Preiss C, Ball C, Martin H, Göhring G, Schwarzwaelder K, Hofmann WK, Karakaya K, Tchatchou S, Yang R, Reinecke P, Kühlcke K, Schlegelberger B, Thrasher AJ, Hoelzer D, Seger R, von Kalle C, Grez M (2010) Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease Nat Med. 16(2), 198-204
  4. Loew R, Meyer Y, Kuehlcke K, Gama-Norton L, Wirth D, Hauser H, Stein S, Grez M, Thornhill S, Thrasher A, Baum C, Schambach S. (2009) A new PG13-based packaging cell line for stable production of clinical grade self inactivating gamma-retroviral vectors using targeted integration. Gen Ther in press
  5. van Lunzen J, Glaunsinger T, Stahmer I, von Baehr V, Baum C, Schilz A, Kuehlcke K, Naundorf S, Martinius H, Hermann F, Giroglou T, Newrzela S, Müller I, Brauer F, Brandenburg G, Alexandrov A, von Laer D. (2007) Transfer of autologous gene-modified T cells in HIV-infected patients with advanced immunodeficiency and drug-resistant virus. Mol Ther. 15, 1024 – 1033
  6. Ott MG, Schmidt M, Schwarzwaelder K, Stein S, Siler U, Koehl U, Glimm H, Kuhlcke K, Schilz A, Kunkel H, Naundorf S, Brinkmann A, Deichmann A, Fischer M, Ball C, Pilz I, Dunbar C, Du Y, Jenkins NA, Copeland NG, Luthi U, Hassan M, Thrasher AJ, Hoelzer D, von Kalle C, Seger R, Grez M. (2006) Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat Med 12, 401 – 409 

 

GENETHON

 

GENEGRAFT Website_March2011_html_m44b0fb4c

 

Didier Caizergues

Genethon

1bis, Rue de l’Internationale

91000 EVRY

 

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Background 

Didier Caizergues is a pharmacist specialized in Regulatory Affairs as well as in product development.  Head of Regulatory Affairs and Quality Assurance at Genethon he has successfully obtained Orphan Drugs designations and Clinical Trial Authorizations for gene therapy products in several European countries.

 

INSERM TRANSFERT

dahlia

 

Dahlia Tsakiropoulos

Inserm Transfert

60 rue de Navacelles

34394 Montpellier 


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Background

 

Senior project manager, Dahlia Tsakiropoulos holds a Master in Business law as well as the French Bar Exam. She joined Inserm Transfert’s Department of European and International affairs in 2004. She is an expert in the management of international and multidisciplinary collaborative research projects.

 

 

FUNDACIÓN PARA LA INVESTIGACIÓN BIOMÉDICA DEL HOSPITAL NIÑO JESÚS

 

FIB

 

Manuel Ramirez and Gustavo Melen

FIBHNJ

Unidad de Terapia Celular y Génica
FIB Hospital Infantil Universitario Niño Jesús.
Avenida Menéndez Pelayo, 65
28009-Madrid
+34915035900 ext. 629/7062

E-mail: 

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Background

 

Dr Manuel Ramirez Orellana/M

Dr. Ramírez’s interests focus on translational research in pediatric cancers. Several lines are pursued responding to the different needs of the clinic. The group has developed a new strategy for treating metastatic solid tumors with oncolytic adenoviruses delivered by autologous mesenchymal stem cells. This project started in the lab and it is now an investigator-driven clinical trial (ClinicalTrials Identifier: NCT01844661; EudraCT2008-000364-16). Additionally, we are encouraging colleagues from different pediatric specialties in getting involved with research projects for advanced therapies in children. Although at a more modest degree of development, we have on going translational research projects in Neuropediatrics (immune-based epilepsies), Orthopedics (Perthes, osteonecrosis) and Rheumatology (arthritis), involving experimental tasks and clinical application of cell-based therapies.

 

Dr. Gustavo Melen/M

Degree in Biology in 1997, PhD in Biology in 2002, both at the University of Buenos Aires. Thesis work about the molecular characterization of the 28S rRNA of a South American rodent model used as explosive speciation and was led by Dr. Alberto Kornblihtt. Dr. Melen did a postdoc at the Weizmann Institute of Science in Rehovot, Israel under the direction of Prof. Benny Shilo in gene expression systems as readouts morphogen gradient in Drosophila. He has been responsible for the unit of molecular biology, expression arrays and SNPs at the Andalusian Stem Cell Bank in Granada. Since January 2010 he is a researcher at the laboratory directed by Dr. Manuel Ramírez in Madrid.

 

 Universidad Carlos III de Madrid

Marcela

Marcela Del Rio

UC3M

 

Director of Biomedical Engineering

Departamento de Bioingeniería. Universidad Carlos III de Madrid
Unidad de Medicina Regenerativa.

CIEMAT-CIBER de Enfermedades Raras

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www.ciberer.es

 



 

 

Prof. Marcela Del Rio (Pharmacist, PhD) is Professor of Bioengineering at UC3M and Head of the U714 Centre of Biomedical Research on Rare Diseases (CIBERER). She has a long-standing experience in epidermal stem cell biology, genetics of rare skin diseases and skin bioengineering,

 

Fernando2

Fernando Larcher

UC3M

Associated Professor

Departamento de Bioingeniería. Universidad Carlos III de Madrid 
Unidad de Medicina Regenerativa.

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www.ciberer.es

 


Dr. Fernando Larcher, (Biochemist, PhD) is the Head of Cutaneous Diseases Modelling Core Facility at U714 CIBERER-CIEMAT. He is also associate professor of Biochemistry at UC3M. He has more than 20 year of experience in keratinocyte biology, skin wound healing and cancer. He is also an expert in field of cutaneous gene therapy. 

He started his scientific career as a pre-doc in the field of mouse skin carcinogenesis under the supervision of Dr. CJ Conti at the UT MD Amderson Cancer Center in Smithville, Texas where he made contributions concerning keratins expression in epidermal tumors in relation to their cytogenetic status. After he got his PhD degree from University of Buenos Aires based on the studies performed at the MD Anderson Cancer Center, he continued hispost-doc career at the CIEMAT, Madrid, Spain under the supervision of Dr. José Jorcano working also on mouse skin carcinogenesis in several transgenic mouse models. After a short stay at the Living skin bank in Stony Brook (PI, Dr. Marcia Simon) in 1994, he started studies using human keratinocytes with the purpose of developing cell and gene therapy approaches for skin diseases. He focused his studies first on the possibility of using genetically modified skin as a bioreactor. Later on (1999-), he focused his efforts in the generation of several humanized animal models of genodermatoses (including various forms of Epidermolysis Bullosa) and approaches to correct their genetic defects. 

 

Key publications

  1. Escámez MJ, et al.. The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation. Br J Dermatol. 2010; 163(1):155-61.
  2. Pasmooij AM et. al. Revertant mosaicism due to a second-site mutation in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2010 ;130(10):2407-11
  3. Aufenvenne K, Rice RH, Hausser I, Oji V, Hennies HC, Rio MD, Traupe H, Larcher F. Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studies.  J Invest Dermatol. 2012 Jul;132(7):1918-21.
  4. Chamorro C, Almarza D, Del Río M, Larcher F et al. Keratinocyte cell lines derived from severe generalized recessive Epidermolysis Bullosa patients carrying a highly recurrent COL7A1 homozygous mutation: models to assess cell and gene therapies in vitro and in vivo. Exp Dermatol. 2013 Sep;22(9):601-3.
  5. Gosty?ski A, Larcher F, Pasmooij AM, Jonkman MF, Del Rio M et al. Long-Term Survival of Type XVII Collagen Revertant Cells in an Animal Model of Revertant Cell Therapy. J Invest Dermatol. 2014 Feb;134(2):571-4.