INFRAFRONTIER Stakeholder Meeting

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

References

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

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  

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

• 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 proposals@infrafrontier.eu 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 - https://www.infrafrontier.eu

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" - https://www.fleming.gr

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) - www.mousephenotype.org 

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 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