INFRAFRONTIER Stakeholder Meeting

Advancing Personalised Medicine with Animal Models


INFRAFRONTIER / IMPC Stakeholder Meeting

14-16 November 2017, Athens, Royal Olympic Hotel

This is the first stakeholder meeting of INFRAFRONTIER, the European Research Infrastructure for phenotyping and archiving of model mammalian genomes. The meeting will be jointly organized with the International Mouse Phenotyping Consortium (IMPC, to which INFRAFRONTIER is contributing. Focus of this meeting is on ‘Advancing Personalised Medicine with Animal Models’. The meeting is open to a wide range of INFRAFRONTIER stakeholders including Personalised Medicine initiatives, Rare Disease networks, funders, regulators and the INFRAFRONTIER user community to discuss advances in CRISPR/Cas9 technology to model human conditions.

Programme in a nutshell

The Stakeholder Meeting will be structured into 3 main themes

1) Advancing Personalised Medicine with Animal Models (14 November)

  • CRISPR/Cas9 based approaches to model human conditions
  • Use cases for the utility of animal models for identifying targets for precision therapies 

2) International Mouse Phenotyping Consortium – Open Annual Meeting (15 November)

  • IMPC CRISPR/Cas9 technology updates, and assessments of phenotyping pipeline, tests in development and new horizons
  • IMPC data analysis and outreach

3) Responsible Research (16 November)

  • Editing mammalian genomes: ethical considerations
  • Reproducibility in experimental animal research


INFRAFRONTIER sponsors ‘Travel Grants’ to attend and contribute to the Stakeholder Meeting

Meeting aims are to:

  • Raise awareness of INFRAFRONTIER / IMPC platforms among current Personalised Medicine initiatives, funders and policy makers
  • Present use cases for the utility of animal models for identifying targets for precision therapies
  • Share advances in CRISPR/Cas9 technology to model human conditions
  • Strengthen interactions with Personalised Medicine initiatives and Rare Disease consortia

Advancing Personalised Medicine with Animal Models

Despite recent successes in identifying causative mutations for human heritable diseases through the use of sequencing technologies, an associated gene has not been identified for approximately half of the reported diseases. Discovery of the genotype-phenotype relationships is a critical step towards understanding of the mechanism of these diseases and the development of new treatments. To address this challenge, the International Mouse Phenotyping Consortium (IMPC) is creating a genome- and phenome-wide catalogue of gene function by characterizing new knockout-mouse strains across diverse biological systems through a broad set of standardized phenotyping tests.

Personalised Medicine initiatives will benefit greatly from this emerging data and biological resources which can be used to detect novel genotype-to-phenotype associations in diseases. Furthermore, new genome-editing technologies such as CRISPR/Cas9 now enable the efficient derivation of precision disease models incorporating patient-specific genetic variants as a means of recapitulating essential aspects of human disease in mouse and other model organisms.

INFRAFRONTIER and IMPC offer unique platforms for the functional validation of genetic variants identified in exome/whole-genome sequencing approaches and the development of mouse models with predictive utility for efficient translation. Generation of precision models is key to the development of new therapies for rare disease.

The INFRAFRONTIER / IMPC Stakeholder Meeting provides an opportunity to explore a better alignment of INFRAFRONTIER / IMPC platforms with current Personalised Medicine initiatives to advance biomedical science and our knowledge of human disease



Lloyd et al., (2015) Precision Medicine: Look to the mice. Science

Lloyd et al., (2016) Animal-based studies will be essential for precision medicine. Science Translational Medicine 

Meehan et al., (2017) Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium. Nature Genetics

Wangler et al., (2017) Model organisms facilitate Rare Disease diagnosis and therapeutic research. Genetics


Confirmed speakers are:

  • Martin Hrabě de Angelis, Helmholtz Zentrum München & INFRAFRONTIER GmbH
  • George Kollias, BSRC Fleming
  • Jason Heaney, Baylor College of Medicine
  • Radislav Sedlacek, Czech Centre for Phenogenomics CCP
  • Soren Warming, Genentech
  • Channabasavaiah Gurumurthy, University of Nebraska 
  • Tomoji Mashimo, University of Osaka
  • Yann Herault, PHENOMIN-ICS
  • Nadia Rosenthal, JAX
  • Steve Brown, MRC Harwell
  • Damian Smedley, GenomicsEngland
  • Rob Burgess, JAX Center for Precision Genetics
  • Cat Lutz, JAX Rare and Orphan Disease Center
  • Jos Jonkers, Netherlands Cancer Institute
  • Enzo Medico, University of Torino
  • Andreas Roos, University of Newcastle
  • Jerry Lanfear, ELIXIR
  • Marisa Papaluca, EMA
  • Monika Frenzel, IC-PerMed
  • Paul Lasko, IRDiRC
  • Colin Fletcher, NIH
  • Martin Fray, MRC Harwell
  • Kirsty Reid, EFPIA
  • Andy Greenfield, MRC Harwell
  • Lluis Montoliu, CSIC-CNB
  • Malcolm Mcleod, University of Edinburgh

Download programme

Tuesday, 14 November 2017, 08:45-19:00
Advancing Personalised Medicine with Animal Models

08:00-08:45Meeting registration
08:45-09:00Meeting opening and objectives
Martin Hrabě de Angelis & Steve Brown
09:00-09:20Opening lecture
Martin Hrabě de Angelis, Helmholtz Zentrum München - INFRAFRONTIER Research Infrastructure
09:20-09:50Keynote lecture
George Kollias, BSRC Fleming - Disease modelling in mice and precision medicine
09:50-10:00The Greek INFRAFRONTIER Research Infrastructure
Dimitris Kontoyiannis, BSRC Fleming - INFRAFRONTIER-GR/Phenotypos
Modelling human conditions using genome editing approaches
Chair: Wolfgang Wurst, Helmholtz Zentrum München
Genome editing approaches to disease modelling in model organisms
10:00-10:20Jason Heaney, Baylor College of Medicine - Modelling human disease variants in murine ortholog(s) with CRISPR/Cas9

Radislav Sedlacek, Czech Centre for Phenogenomics - KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype


Coffee break


Soren Warming, Genentech - In-depth analysis of CRISPR off-targets in genetically engineered rodents

11:30-11:50Tomoji Mashimo, Osaka University - Efficient generation of conditional knockout mice by CLICK
11:50-12:10Channabasavaiah Gurumurthy, University of Nebraska - Easi Crispr for conditional and insertional alleles
12:10-12:30Yann Herault, PHENOMIN-ICS - In vivo chromosomal engineering in rodents to analyse structural variants through Crismere
12:30-12:45Nadia Rosenthal, JAX - Outlook: Of mice and CRISPR
12:45-13:45Lunch break
Contribution of (large-scale) mouse resources to Personalised Medicine
Chair: John Seavitt, Baylor College of Medicine
13:45-14:05Steve Brown, MRC Harwell - Relevance of an encyclopedia of mammalian gene function for precision medicine initiatives
14:05-14:25Damian Smedley, GenomicsEngland - Use of phenotype data to obtain novel insights into disease causes and mechanisms
14:25-14:45Rob Burgess, JAX Center for Precision Genetics - Developing personalized gene therapy approaches
14:45-15:05Cat Lutz, JAX Rare and Orphan Disease Center - Generation of an allelic series using CRISPR/Cas9 to study familial FALS
15:05-15:25Jos Jonkers, Netherlands Cancer Institute - CRISPR/Cas9-based mouse models of breast cancer
Contribution of EU Research Infrastructures and other large EU initiatives to Personalised Medicine
Chair: Radislav Sedlacek, CCP
15:25-15:45Enzo Medico, University of Torino - EurOPDX Consortium: PDX models as an emerging way to personalized medicine in translational cancer research
15:45-16:05Andreas Roos, University of Newcastle - RD-Connect: Data sharing and analysis for rare disease research
16:05-16:25Jerry Lanfear, ELIXIR - CORBEL and contributions of the EU health related infrastructures to Personalised Medicine in Europe
16:25-16:45Coffee break
Policy, regulatory and funder perspectives on contribution of (large-scale) mouse resources to Personalised Medicine
Chair: Yann Herault, PHENOMIN-ICS
16:45-17:05Marisa Papaluca, European Medicines Agency (EMA) - Personalised Medicine Regulatory Issues
17:05-17:25Colin Fletcher, NIH - IMPC program integration
17:25-17:45Monika Frenzel, International Consortium for Personalised Medicine IC-PerMed - Translation of basic research results into clinical research and beyond
17:45-18:00Paul Lasko, IRDiRC - Future of rare diseases research 2017-2027

Panel discussion
Chair: Kent Lloyd, UC Davis
Aligning the development of (large scale) mouse resources with Personalised Medicine initiatives


  • John Seavitt - IMPC
  • Monika Frenzel - IC-PerMed
  • Paul Lasko - IRDiRC
  • Damian Smedley - GenomicsEngland

Closing remarks
Martin Hrabě de Angelis

Tuesday, 14 November 2017, 19:00-20:00 / Networking reception

Wednesday, 15 November 2017, 08:30-19:00:
International Mouse Phenotyping Consortium (IMPC) / Annual Meeting


Opening remarks
Steve Brown


IMPC mouse production
Chairs: Lauryl Nutter, Steve Murray

Overview of mouse production and tech dev - Lauryl Nutter
Design QA and allele & mouse line QC pipelines - Lauryl Nutter
Mouse line QC - what about off-target mutagenesis? - Kevin Peterson
Community impact - distrubution & collaboration - Josh Wood & Steve Murray

10:15-10:45Coffee break

IMPC phenotyping and data analysis
Chairs: Annie Mallon, Damian Smedley, Ann Flenniken and John Seavitt

  • Overview of the data in the database (from embryo to late onset) – Luis Santos

Summaries and discussions of phenotyping pipelines and platforms

  • Late adult pipeline - Sara Wells, Hamed Haselimashhadi
  • Immunophenotyping - Lauryl Nutter
  • Pain assessment - Elissa Chessler
  • Metabolomics - Art Beaudet
  • Combined proteomics and metabolomics analysis - Dave Schibli, Oliver Fiehn
  • Lightning updates from other working groups
13:00-14:00Lunch break
14:00-15:20IMPC phenotyping and data analysis continued
Summaries of analyses, including papers in preparation
  • Embryo image analysis - Henrik Westerberg
  • Multivariate analyses - Habib Ganjgahi
  • Behaviour paper - Elissa Chessler
  • Bone paper - Anne Swan
  • Metabolomics paper - John Seavitt
  • Subviable paper - Hugh Morgan
  • Cardiovascular paper - Corey Reynolds
  • Conservation paper - Violeta Munoz-Fuentes
15:20-15:50Coffee break

Data and programme integration

  • Summary and discussion of data integration opportunities: from MARRVEL to MONARCH - Damian Smedley
  • IMPC and CMG: Formalizing parntership in advancing human mendelian genomics - Jennifer Posey, BCM

IMPC outreach and dissemination
Chair: Terry Meehan

  • Update on IMPC portal - Terry Meehan
  • IMPC website redesign - James Sudlow/Duncan Sneddon
  • Update on outreach - Amy Johnson
  • Update on publications and other metrics analysis - Sheetal Jose, Colin Fletcher

Closing remarks
Steve Brown

17:30 Panel of Scientific Consultants - Private Session
 18:30 Feedback to IMPC Steering Committee
17:30-19:00 Poster session and networking reception

Thursday, 16 November 2017, 08:30-12:00:
Responsible Research

Responsible research - Contribution of large-scale mammalian resources to animal welfare and reproducibility
Chair: Lluis Montoliu, Spanish National Research Council (CSIC)


Lluis Montoliu, CSIC-CNB, Fostering responsible research with genome editing technologies: a European perspective


Andy Greenfield, MRC Harwell, Editing mammalian genomes: ethical considerations


Martin Fray, MRC Harwell, Sharing mutations: Biobanks are still required in the post-CRISPR/Cas9 era

09:30-09:50Kirsty Reid, EFPIA - Industry initiatives and contributions towards developing better diseases models
09:50-10:20Keynote lecture
Malcolm Macleod, University of Edinburgh - Data quality and reproducibility in preclinical research
10:20-10:45Coffee break

Stakeholder presentations
Chair: Jesus Ruberte, Autonomous University of Barcelona

  • Raffaele Teperino, Helmholtz Zentrum München - Multigenerational metabolic control: the role of Polycomb
  • Anniina Hiltunen, University of Oulu - Mouse models in the study of FINLA disease and NHLRC2 gene
  • Amy Findlay, University of Edinburgh - Characterisation of Retinal Degeneration in Idh3a Mutant Mice
  • Bruno Pereira, University of Porto, Institute for Research and Innovation in Health - IPATIMUP - RNA-binding protein MEX3A role on intestinal stem cell homeostasis and implications for cancer
  • Binnaz Yalcin, IGBMC Strasbourg - Large-scale neuroanatomical screen uncovers novel genes involved in brain morphogenesis
  • Maria Sakkou, BSRC Alexander Fleming

Meeting summary / Wrap-up
Radislav Sedlacek & Dimitris Kontoyiannis

Registration and Travel Grants
  • Meeting registration is required for attendance and records accommodation requirements. Please submit registration details here
  • The registration information will be forwarded to the meeting venue. A direct registration at the Royal Olympic Hotel is not required
  • INFRAFRONTIER and IMPC meeting participants are expected to cover their own travel expenses
  • Travel and accommodation cost for external participants will be covered by INFRAFRONTIER
  • INFRAFRONTIER provides Travel Grants for up to 20 international investigators who conduct basic biomedical research. Application for travel grants requires submission of an abstract. When submitting your abstract you can apply for an oral or poster presentation at the INFRAFRONTIER / IMPC Stakeholder meeting. For oral presentations, preference will be given to applicants submitting abstracts covering key meeting topics such as the application of CRISPR/Cas9 for human disease modelling, CRISPR/Cas9 technology development, mouse model phenotyping or for research using IMPC mouse resources. The Travel Grants support travel to the meeting and accommodation at the meeting venue. Selection will be based on submitted abstracts. Abstracts can be submitted using dedicated forms and must be submitted to until 15 October. Selected applicants will be notified by 20 October 2017. Please be aware that abstracts may be made available digitally or printed to all delegates at the meeting.


INFRAFRONTIER Research Infrastructure -

Funding will be provided by the EU Research and Innovation program Horizon 2020 for the projects INFRAFRONTIER2020 and IPAD-MD. INFRAFRONTIER is the European Research Infrastructure for phenotyping and archiving of model mammalian genomes. The INFRAFRONTIER Research Infrastructure provides access to first-class tools and data for biomedical research, and thereby contributes to improving the understanding of gene function in human health and disease using the mouse model. The core services of INFRAFRONTIER comprise the systemic phenotyping of mouse mutants in the participating mouse clinics, and the archiving and distribution of mouse mutant lines by the European Mouse Mutant Archive (EMMA). In addition, INFRAFRONTIER provides specialized services such as the generation of germ-free mice (axenic service) and training in state of the art cryopreservation and phenotyping technologies.

BSRC "Alexander Fleming" -

FLEMING is a partner of INFRAFRONTIER, coordinator of the local node INFRAFRONTIER-GR/Phenotypos and hosting the Stakeholder meeting. BSRC Alexander Fleming performs cutting-edge research, aiming to understand molecular mechanisms of complex biological processes in health and disease. It is also committed to contributing to innovation in medicine, by developing novel therapeutic and diagnostic methods, focusing on immunity and inflammation, cancer, and neurodegenerative diseases. BSRC Alexander Fleming is a non-profit organization operating under the auspices of the Greek General Secretariat for Research & Technology and is supported by the Greek government and by national, European and international grants. 

International Mouse Phenotyping Consortium (IMPC) - 

The IMPC addresses one of the grand challenges for biology and biomedical science in the 21st century – to determine the function of all the genes in the human genome and their role in disease. The goal of the IMPC is to develop a comprehensive catalogue of mammalian gene function. The IMPC aims to generate a null mutation for every protein-coding gene in the mouse genome, to acquire broad-based phenotype data for each mutation, and to disseminate the mutant resource and phenotype data to the scientific community. Ultimately the IMPC program will provide information on the function of all genes and genetic networks and a powerful dataset that will underpin fundamental new insights into the genetic bases for disease. 

Financial Support

Financial support is provided by the INFRAFRONTIER2020 and IPAD-MD projects

INFRAFRONTIER2020 received funding from European Union's Horizon 2020 research and innovation program under Grant Agreement number 730879

IPAD-MD has received funding from European Union's Horizon 2020 research and innovation programme under Grant Agreement number 653961