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 ‘Young Investigator 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


Confirmed speakers are:

  • Martin Hrabě de Angelis, Helmholtz Zentrum München & INFRAFRONTIER GmbH
  • George Kollias, BSRC Fleming
  • John Seavitt, Baylor College of Medicine
  • Jason Heaney, Baylor College of Medicine
  • Radislav Sedlacek, Czech Centre for Phenogenomics
  • Soren Warming, Genentech
  • Channabasavaiah Gurumurthy, University of Nebraska 
  • Tomoji Mashimo, University of Osaka
  • Yann Herault, PHENOMIN-ICS
  • Steve Brown, MRC Harwell
  • Martin Fray, MRC Harwell
  • Andy Greenfield, 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
  • Colin Fletcher, NIH
Draft Programme

Tuesday, 14 November 2017, 9:00-18:00:
Advancing Personalised Medicine with Animal Models

09:00-09:10Meeting opening and objectives

Steve Brown & Martin Hrabě de Angelis

09:10-09:30Opening lecture

Martin Hrabě de Angelis - INFRAFRONTIER Research Infrastructure

09:30-10:00Keynote lecture

George Kollias - Modelling mechanisms of chronic inflammatory diseases

10:00-12:30Session 1: Modelling human conditions using genome editing approaches
  • CRISPR/Cas9 based approaches to disease modelling in model organisms
  • CRISPR off-targets in mice
  • CRISPR/Cas9 Technology development (conditional and insertional alleles, chromosomal engineering)

Session 2: Contribution of (large-scale) mouse resources to Personalised Medicine

  • Relevance of an encyclopedia of mammalian gene function for precision medicine initiatives
  • Using phenotype data to obtain novel insights into disease causes and mechanisms
  • Developing personalized gene therapy approaches
  • Generation of an allelic series using CRIPR/Cas9 to study FALS
  • CRISPR/Cas9-based mouse models of breast cancer
 15:30-16:15Session 3: Contribution of EU Research Infrastructures and other large EU initiatives to Personalised Medicine
  • EurOPDX Consortium: PDX models as an emerging way to personalized medicine in translational cancer research
  • CORBEL – contribution from the EU health related infrastructures to precision medicine initiatives
16:45-17:45 Session 4: Regulatory / Policy and Funder perspectives on contribution of (large-scale) mouse resources to Personalised Medicine
17:45-18:30Panel discussion: Aligning the development of (large scale) mouse resources with precision medicine initiatives

Tuesday, 14 November 2017, Social Event / Conference Dinner

Wednesday, 15 November 2017, 09:00-18:00:
International Mouse Phenotyping Consortium (IMPC) / Annual Meeting

09:00-11:00Session 5: IMPC Mouse Production

Session 6: IMPC Phenotyping and Data Analysis

  • Summaries and discussions of phenotyping pipelines and platforms
  • Summaries of analyses, including papers in preparation
  • Data and programme integration
16:00-17:30Session 7: IMPC Outreach and Dissemination

Thursday, 16 November 2017, 09:00-12:00:
Responsible Research


Session 8: Education and Training, Young Investigators

  • Selected presentations of young investigators
  • Focus on projects using CRISPR/Cas9 for human disease modelling, CRISPR/Cas9 technology development, or for research using IMPC mouse resources

Session 9: Responsible research - Contribution of large-scale mammalian resources to animal welfare and reproducibility

  • Fostering responsible research with genome editing technologies: a European perspective
  • Editing mammalian genomes: ethical considerations
  • Biobanks are still required in the post-CRISPR/Cas9 era
  • Data quality and reproducibility in preclinical research
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 ‘Young Investigator Travel Grants’ for up to 25 international Young 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 September 15th. Eligible applicants must be the first and presenting author of the abstract, and be a student or within five years of completion of a Ph.D. Selected applicants will be notified by October 1st. 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.


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