Spring School 2019

42 days

2 hours

6 mins

Print Programme
Tuesday 16 October 2018
17:00-19:00             2018 Opening session
Chairs: Robin Ali, Pierre Cordelier, Nicole Deglon, Nancy Witty

          INV028: Grégoire Courtine
EPFL, Lausanne
Targeted neurotechnologies enabling walking after paralysis

INV029: Didier Trono (2018 Outstanding Achievement Award lecture)
EPFL, Lausanne
   Retroelements, their polydactyl controllers and the specificity of human biology
19:00-20:00 Welcome reception
Wednesday 17 October 2018
Session 1a:
Disease modelling
Chairs: Amy Wagers

INV030: Eva Hedlund
Karolinska Institute, Stockholm
Elucidating early disease mechanisms in ALS using stem cells

INV031: Holger Willenbring
University California San Francisco
A mouse model of a human cholestatic liver disease reveals extent and therapeutic potential of mammalian transdifferentiation

OR001: Jamal Alzubi

Institute for Transfusion Medicine and Gene Therapy, Freiburg
A novel chimeric antigen receptor (CAR) T cell approach eliminates prostate cancer in a mouse tumor model

OR002: Saskia König
Institute for Transfusion Medicine and Gene Therapy, Freiburg
Allele-specific editing of STAT3 mutations with CRISPR-Cas in primary cells of hyper-IgE syndrome patients

P166: Kathrin Haake
Hannover Medical School

Hematopoietic stem cell gene therapy for Ifnγr1 deficiency protects mice from mycobacterial infections and paves way for macrophage transplantation therapy 

P167: Viviane Dettmer
Institute for Transfusion Medicine and Gene Therapy, Freiburg
Retroviral UNC13D transfer restores cytotoxic function in T cells derived from familial hemophagocytic lymphohistiocytosis type 3 patients
Session 1b:
Cancer gene and cell therapy

Chairs: Vincenzo Cerullo, Nicolas Boisgerault

INV032: Waseem Qasim
University College London
Genome engineered T cell immunotherapies for leukaemia 

INV033: Kah Whye Peng
Mayo Clinic, Rochester, MN
VSV-IFNb-NIS, an armed and trackable oncolytic vesicular stomatitis virus

OR003: Micaela Harrasser
University College London

Effective targeting of ROR1+ solid tumours with next-generation Chimeric Antigen Receptor therapy

OR004: Catia Traversari
MolMed S.p.A.

In vivo antitumour activity of a hCD44v6-specific chimeric antigen receptor in syngeneic models of solid tumours

P093: Ching Yan Chang
Osaka University

RIG-I pathway stimulation polarizes neutrophils to anti-tumor type neutrophil and suppress tumor growth.

P019: Silke Uhrig-Schmidt
University Hospital Heidelberg

CARAAVs - a novel class of CAR-antagonists in cancer immunotherapy

P328: Razieh Monjezi
University Hospital Würzburg
CRISPR/Cas9 unites with Sleeping Beauty to generate CAR-T cells with enhanced therapeutic index for fighting against immunosuppressive tumour microenvironment

Session 1c:
CNS and eye diseases gene and cell therapy I

Chairs: Alberto Auricchio, Yvan Arsenijevic

INV034: Ian MacDonald 
University of Alberta
Gene therapy for choroideremia: what have we learned from the clinical trials to date

INV035: Sandro Alves
Brainvectis, Paris
CYP46A1-gene therapy alleviates Spinocerebellar ataxia in mouse models

OR005: Samiah Al Zaidy
Centre for Gene Therapy, Nationwide Children’s Hospital

AVXS-101 phase 1 gene replacement therapy clinical trial in spinal muscular atrophy type 1 (SMA1): 24-month event-free survival and achievement of developmental milestones

OR006: Stylianos Michalakis
Ludwig-Maximilians-University Munich

Gene supplementation therapy for CNGA3-linked Achromatospia

P222: Rui Nobre
University of Coimbra

Non-invasive allele-specific silencing therapy and biomarkers for Machado-Joseph disease

P223: Ruslan Grishanin
Adverum Biotechnologies, Menlo Park, CA
Long-term aflibercept expression levels in non-human primates following intravitreal administration of ADVM-022, a potential gene therapy for wet agerelated macular degeneration
10:40-11:10 Coffee break
11:10-13:10           Plenary session 2:
         From bench to bedside I

Chairs: Luigi Naldini, Christof von Kalle

INV036: Stuart Forbes
Edinburgh University, Centre of regenerative medicine
Macrophage therapy for liver disease- preclinical and clinical

INV037: Amy Wagers
Harvard University, Cambridge, MA
In vivo gene editing in tissues and tissue stem cells

INV038: Bev Davidson
The Children’s Hospital of Philadelphia and The University of Pennsylvania
Emerging therapies for neurodegenerative diseases

INV039: Wing Yen Wong
BioMarin, Novato, CA
Gene therapy in haemophilia: from vision to reality
13:10-15:10 Lunch
Poster session I (odd numbers)

                             Regulatory workshop 

Alison Armstrong
15:10-16:50 Session 2a:
Genomic characterisation of pluripotent stem cells

Chairs: Ludovic Vallier

INV040: Fiona Watt
King's College, London
Identifying extrinsic and intrinsic drivers of variation in cell behaviour in human iPS cell lines

INV041: Kevin Eggan
Harvard University, Cambridge, MA
Reducing noise and bias from studies of disease-implicated genetic variation through massively-mosaic stem cell systems

INV091: Tenneille Ludwig
WiCell, Madison WI
Identification of recurrent genetic variants in hPSCs; a changing landscape

Session 2b:
Vector development I

Chairs: Els Verhoeyen, Axel Schambach

INV043: Jay Chiorini
Characterisation of AAV44.9

INV044: Dirk Grimm
Bioquant, Heidelberg
Small but increasingly mighty - Latest advances in AAV biology and vector optimization

OR007: Kleopatra Rapti
Heidelberg University Hospital

Generation of novel immune-evading AAVs through identification and mutation of immunogenic epitopes in the variable capsid regions of Adeno-Associated Virus 9

OR008: Monica Volpin
The impact of vector integration on chromatin architecture

P483: Weiheng Su
University of Oxford
Exploiting adenovirus mechanisms for the enhanced production of AAV vectors

P484: Jihad El Andari
University Hospital Heidelberg
Identification of new muscle-tropic Adeno-associated virus (AAV) capsids for treatment of rare hereditary muscular disorders

Session 2c:
EMA/CAT Regulatory aspects of Advanced Therapy Medicinal Products (ATMPs) 
Chairs: Martina Schüsser-Lenz, Ilona Reischl

INV045: Martina Schüssler-Lenz
Paul Ehrlich Institute, Langen

Introduction to the Committee for Advanced Therapies (CAT) and its tasks in the evaluation of Advanced Therapies

INV046: Marcos Timón
EU Regulatory aspects of CAR T cells

INV047: Hans Ovelgönne
Medicines Agency, Netherlands
EU Regulatory aspects of rAAV vectors

INV048: Matthias Renner
Paul Ehrlich Institute, Langen
EU Regulatory aspects of genome editing

Round Table discussion
16:50-17:20 Coffee break
17:20-18:50                        Plenary session 3:
Cancer immunotherapy and cancer stem cells

Chairs: Chiara Bonini, Robert Blelloch

INV049: Hinrich Abken
University Hospital Regensburg
CARs and TRUCKs: next generation adoptive cell therapy

INV050: Yasuhiro Yamada
University of Tokyo
Dissecting cancer biology with iPS cell technology

INV051: Robert Blelloch
University of California, San Francisco
Exosomal PD-L1 as an immune-modulator in cancer
Thursday 18 October 2018
9:00-10:40 Session 3a:

Chairs: Molly Stevens

INV052: David Schaffer
University of California, Berkeley
Molecular elucidation and engineering of stem cell fate decisions 

INV053: Penney Gilbert
University of Toronto
Making 3D models that matter: engineering skeletal muscle tissue in a dish

OR009: Pauline Schmit
Harvard University, Cambridge, MA
Cross-packaging control in multiplexed AAV libraries

OR010: François du Plessis
uniQure biopharma, Amsterdam

Development of a next generation synthetic promoter for liver directed gene therapy

P168: Ekaterina Naumenko
Kazan Federal University

Enchanced dark-field microscopy for histological detection of nanostructured scaffolds after implantation into bone defects 


P169: Albert Rizvanov
Kazan Federal University
Migration ability of human polymorphonuclear leukocytes loaded with synthetic microcapsules

Session 3b: Muscle  & cardiovascular diseases 
Chairs: Michel Pucéat, Uta Griesenbach

INV054: Ana Buj Bello
Genethon, Evry
Gene therapy of myotubular myopathy: from preclinical studies to a clinical trial

INV055: Silvia Priori
Istituti Clinici Scientifici Maugeri
Gene therapy to prevent chaotic behaviours in cardiac electrophysiology

INV056: Antoine de Vries
Shining light on cardiac tachyarrhythmias
Leiden University Medical Centre

P392: Capucine Trollet
Sorbonne University, Paris

BB-301: a single “silence and replace” AAV-based vector for the treatment of oculopharyngeal muscular dystrophy (OPMD)

P247: Francesco Tedesco
University College London
High-fidelity disease modelling of skeletal muscle laminopathies using LMNA-mutant human iPS cells and bioengineered muscles

Session 3c:
Blood disorders I

Chairs: Juan Bueren, Waseem Qasim

INV057: Marina Cavazzana
Institut Imagine, Paris
Gene Therapy of Hemoglobinopathies

INV058: Bernhard Gentner
Towards next-generation gene therapy with ex vivo-engineered haematopoietic stem and progenitor cells 

OR011: Frank Staal
Leiden University Medical Centre

Developing stem cell-based gene therapy for RAG1 deficient-SCID

OR012: Paula Rio
Gene therapy trial in non-conditioned Fanconi anemia patients

P052: Carlos Carrascoso

Towards the gene therapy of the bone marrow failure in patients with dyskeratosis congenita

P053: Pamela Quaranta
Role of peripheral blood circulating haematopoietic stem/progenitor cells during physiological hematopoietic maturation and after gene therapy
10:40-11:10 Coffee break
11:10-12:40                     Plenary session 4:
From bench to bedside II

Chairs: Adrian Thrasher, Malin Parmar

INV059: Deepak Srivastava
Gladstone Institutes, San Francisco, CA
Cardiac development: basis for disease and regeneration
INV060: Kristin Baldwin
Scripps Research, San Diego, CA
Precision reprogramming approaches to cardiovascular and neurologic disease

INV061: Lorenz Studer
Memorial Sloan Kettering Cancer Center, New York
Towards a pluripotent-based cell therapy for Parkinson’s disease
12:40-14:40                      Lunch
                  Workshop on the use of lentiviral vectors for in vivo gene therapy
Luigi Naldini
, SR-TIGET, Milan, Liver-directed lentivral gene therapy of hemophilia
Deborah Gill, University of Oxford, Lung-targeted SIV gene therapy for cystic Fibrosis
Kyri Mitrophanous, Oxford Biomedica, Clinical experience of local administration of lentiviral vectors in retinal disorders and Parkinson’s disease

                    Poster session II (Even numbers)
14:40-16:50 Session 4a:
Molecular basis of developmental potential

Chairs: Amander Clark

INV062: Jennifer Erwin
The Lieber Institute for Brain Development, Baltimore, MD
Repetitive elements in stem cells

INV063: Ludovic Vallier
Wellcome Sanger Institute, Cambridge, UK
Mechanisms controlling cell fate decisions in human pluripotent stem cells
OR013: Julien Pontis
EPFL, Lausanne
Evolutionarily recent transposable elements and their controllers regulate human early embryonic transcriptional network
Session 4b:
Vector development II

Chairs: Hildegard Büning, Karim Benihoud

INV064: Rob Kotin
University of Massachusetts Medical School, Worcester, MA
Orthologous dependoparvovirus molecular fossils may provide a source of novel structural motifs and capsids for rAAV

INV065: Jude Samulski
University of North Carolina Chapel Hill
Gene therapy for DMD: from bench to bedside

INV066: Eduard Ayuso 
University of Nantes
Starting from the end: analytics driving the manufacturing process of viral vectors

OR014: Mathieu Mevel
University of Nantes

NextGenAAV: a mix of organic chemistry and vectorology

OR015: Sonja Kleinlogel
University of Bern
Evolution of recombinant adeno-associated viral vectors for favorable retinal penetration properties

P485: Pasqualine Colella
University of Paris-Saclay

Tandem promoter design confers tolerogenic and persistent transgene expression to AAV gene therapy in neonate Pompe mice

Session 4c:
Gene editing

Chairs: Keith Joung, Paula Rio

INV067: Toni Cathomen
University of Freiburg
New insights in CRISPR-Cas specificity, DNA repair dynamics and DNA repair outcomes in gene edited human haematopoietic stem cells

INV068: Yong Chang
Intellia Therapeutics
Delivering on the therapeutic potential of CRISPR/cas9: development of an LNP-mediated genome editing therapeutic for the treatment of ATTR

OR016: Gerald Schwank
ETH Zürich

Correction of autosomal recessive disorders via CRISPR-associated base editors in adult animals

OR017: Jae Young Lee
ToolGen, Seoul

CRISPR/Cas9-mediated downregulation of PMP22 ameliorates Charcot-Marie-Tooth disease 1A in mice

OR018: Jonathan Finn
Intellia Therapeutics, Cambridge, MA

Supra-therapeutic levels of transgene expression achieved in vivo by CRISPR/Cas9 mediated targeted gene insertion

OR019: Anais Amaya
The University of Sydney

Successful in vivo editing of patient-derived primary human hepatocytes

P298: Alessia De Caneva
ICGEB, Trieste

Coupling AAV-mediated promoterless gene targeting to SaCas9 nuclease to efficiently correct liver metabolic diseases

P299: Antonio Casini
University of Trento
evoCas9, a highly specific SpCas9 variant from a yeast in vivo screening

P300: Els Verhoeyen
CIRI; INSERM U1111; Lyon
Efficient genome editing in primary human T, B and HSCs using Baboon envelope gp pseudotyped virus derived “Nanoblades” loaded with Cas9/sgRNA ribonucleoproteins

16:50-17:20 Coffee break
17:20-19:20              Plenary session 5:
           New tools and technologies

Chairs: Robin Ali, Gordon Keller

INV069: Keith Joung
Harvard Medical School, Cambridge, MA
In vivo
CRISPR gene editing with no detectable genome-wide off-target mutations

INV070: David Russell
University of Washington and Universal Cells, Inc.. Seattle, WA
Universal donor stem cells

INV71: Botond Roska
Friedrich Miescher Institute for Biomedical Research, Basel
The human retina and its organoids at single cell resolution

INV072: Alex Meissner
Max Planck Institute for Molecular Genetics, Berlin
Differential regulation of Oct4 targets facilitates reacquisition of pluripotency
20:00             Molecular Mingle
Friday 19 October 2018
09:00-10:40 Session 5a:
Cell therapy and replacement

Chairs: Stuart Forbes,

INV073: Asuka Morizane
University of Kyoto
Cell therapy for Parkinson’s disease with induced pluripotent stem cells

INV074: Hanna Mikkola
University of California, Los Angeles
MLLT3 governs human hematopoietic stem cell self-renewal

OR020: Giorgia Santilli
University College London

Towards clinical application of a lentiviral gene therapy protocol for p47phox deficient chronic granulomatous disease 

OR021: Ilaria Meloni
University of Siena
Toward gene editing in Rett Syndrome

P170: Immacolata Brigida
Gene therapy for adenosine deaminase 2 deficiency


Session 5b:
Metabolic and lysosomal diseases

Chairs: Federico Mingozzi, Fatima Bosch

INV075: Juan Ruiz
Abeona Therapeutics, Dallas, TX
Treatment of lysosomal storage diseases (MPS-IIIA and IIIB) by intravenous administration of AAV vectors

INV076: Michel Zerah
Necker Hospital, Paris
Intracerebral gene therapy: neurosurgical point of view

OR023: Brian Bigger
University of Manchester
Brain targeted stem cell gene therapy corrects Mucopolysaccharidosis type II via multiple mechanisms?

OR022: Joseph Lillegard
Mayo Clinic, Rochester, MN
In utero liver-directed lentiviral gene therapy cures a pig model of hereditary tyrosinemia type 1

P357: Sem Aronson
University of Amsterdam

AAV-mediated liver directed gene therapy corrects the cholestatic phenotype in Abcb4-/- mice

Round table

Session 5c:
Blood disorders II

Chairs: Olivier Nègre, Thierry VandenDriessche

INV077: Isabelle André-Schmutz
Institute Imagine, Paris
Ex vivo generated lymphoid progenitors for immune reconstitution in the context of allogeneic transplantation and gene therapy

INV078: Basil Sharrack
University of Sheffield
Autologous hematopoietic cell transplantation in multiple sclerosis

OR024: Elena Almarza Novoa
CIEMAT, Madrid

Comprehensive preclinical studies for the gene therapy of patients with leukocyte adhesion deficiency Type I (LAD-I)

OR025: Ilana Moscatelli
Lund University

Haematopoietic stem cell targeted neonatal gene therapy by a clinically applicable lentiviral vector corrects osteopetrosis in oc/oc mice

P054: Elena Barbon
University of Evry

The potential use of nanobodies delivered via AAV vectors in the treatment of haemophilia

P171: Cristina Olgasi
University of Eastern Piedmont

Patient-specific iPSC-derived endothelial cells provide long-term phenotypic correction of haemophilia A

10:40-11:10 Coffee break
11:10-13:10 Plenary session 6:
Organoids and cell engineering

Chairs: Robin Ali, Deepak Srivistava

INV079: Molly Stevens
Imperial College London
Exploring and engineering the cell-material interface for regenerative medicine and mechanobiology

INV080: Rick Livesey
University of Cambridge
Engineering stem cell-derived human neural tissues to study brain development and disease

INV081: Hiromitsu Nakauchi
University of Tokyo
From cells to organs: exploiting the organ niche for interspecies organogenesis

INV082: Gordon Keller
University of Toronto
Translating human development to new therapies with pluripotent stem cells
13:10-15:00 Lunch
* Early Career Researchers career's workshop

 Vincenzo Cerullo and Deniz Kirik
University of Helsinki

Gene therapy for the 21stcentury patient workshop

The participants in this session will discuss topics such as ensuring that evidence generated meets the needs of patients, patient’s funding research, views on risk level acceptability and trial design, patient perspective on early access and compassionate use, recruitment, achieving clinical trial adherence and long-term engagement
Chairs: Nathalie Cartier, Samantha Parker

Annie Hubert - ARM
Nicole Boice - Global Genes: Patients in gene therapy drug development from basic research to commercialization

 Cara O’Neill - Cure Sanfilippo Foundation: Effective engagement with patient groups in gene therapy clinical trials
Elin Haf Davies - Aparito: Value of patient generated data for remote real-time monitoring. 

Poster session III
15:00-16:30 Session 6a: Regulation and control of puripotency and lineage specification?

INV083: Keisuke Kaji
Edinburgh University
Molecular mechanisms of cellular reprogramming

INV084: Amander Clark
University of California Los Angeles
Unique control of naïve pluripotency in human stem cells and the germline 

OR026: Alberto De Iaco
EPFL, Lausanne

DPPA2 and DPPA4 regulate expression of Dux in mouse embryonic stem cells

P371: Pavel Makarevich
Moscow State University
Role of paracrine factors secreted by mesenchymal stromal cells in spermatogonial stem cell niche regulation


Session 6b:
Immune responses following gene therapy: from vaccines to vector optimisation

Chairs: Anne Galy, Jude Samulski

INV085: Maria Croyle
University of Texas, Austin
Reaching beyond the cold chain: formulation design of vaccines to improve potency, enhance distribution and modulate other biological processes

INV086: Ying Kai Chan
Harvard University, Cambridge, MA
Engineering AAV vectors to evade innate immune and inflammatory responses 

OR027: Dimitrios Laurin Wagner
Charité, Berlin

T cell immunity towards CRISPR-associated nucleases

OR028: Tim Beissert
TRON gGmbH, Mainz
Alphaviral trans-replicating RNA is a low dose vaccine vector
Session 6c:
CNS and eye diseases II

Chairs: Nathalie Cartier, Nicole Deglon

INV087: Shin-ichi Muramatsu
Jichi Medical University
Gene therapy for Parkinson disease: Implications from a clinical study of AADC deficiency

INV088: Alberto Auricchio
TIGEM, Naples
Expanding AAV transfer capacity in the retina

OR029: Vania Broccoli
San Raffaele Hospital, Milan
Modeling functional and dysfunctional brain circuits with human iPSC-derived neurons in microfluidic chambers

OR030: Lee Ni-Chung
National Taiwan University Hospital

Gene therapy for AADC deficiency results in de novo dopamine production and supports durable improvement in major motor milestones

16:30-17:00 Coffee break
             Presidential symposium
                ESGCT AGM

Chairs: Robin Ali, Pierre Cordelier, Nicole Deglon, Nancy Witty

INV089: Juergen Knoblich
Institute of Molecular Biotechnology, Vienna
Cerebral organoids: modelling human brain development and tumorigenesis in stem cell derived 3D culture 

INV090: Rudolf Jaenisch
MIT, Cambridge, MA
Epigenetic regulation in development, ageing and disease

            OR031: Alessio Cantore (Young Investigator Award lecture)
Shielding lentiviral vectors from phagocytosis increases hepatocyte gene transfer in non-human primates