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Applications of gene editing on research and therapy of human rare diseases

Life and Matter Sciences International Symposium January 25 and 26, 2018 Madrid

General information

Venue: Fundación Ramón Areces, C/ Vitruvio, 5. 28006. Madrid
Limited capacity

  • Simultaneous interpretation
  • Free registration

In cooperation with:

CIBERER-ISCII

Coordinator/s:

Main coordinator:   
Lluís Montoliu
CNB-CSIC y CIBERER-ISCIII, Madrid

Deputy coordinator: 
José Carlos Segovia
CIEMAT, IIS-FJD y CIBERER-ISCIII, Madrid 

  • Description
  • Programme

Gene editing tools such as ZFN, TALEN and, mainly, CRISPR, have triggered a true revolution in biomedicine. Their great versatility and capacity to drive genome modifications at specific genes and sequences have transformed the current research biomedical projects. Numerous research projects have already implemented and are regularly using CRISPR.

This is particularly true in the case of research on human rare diseases. Due to the large number of rare genetic conditions among the population, it is still true for most of them the need to develop cellular and animal models, at the pre-clinical level, where to investigate their origin and their underlying cellular mechanisms that would allow explaining their consequences. Gene editing tools can easily reproduce in cellular and animal models the mutations found in patients, making those more suitable for studying the rare disease. In addition, gene editing tools can be embedded into vectors or viral particles and be used for therapeutic approaches, to develop innovative treatments for gene therapy.

In this symposium, we will review the current state of development of diverse strategies using gene editing tools both from basic and applied research, with a clear clinical aim, in human rare diseases. National and international speakers invited to this symposium will present and share their cellular and animal models they have developed and the therapeutic proposals aiming to correct, in the near future, genetic alterations in patients affected by any of the many rare diseases.

Thursday, 25

09:30

Welcome and presentation

Federico Mayor Zaragoza
Fundación Ramón Areces.

José María Medina
Fundación Ramón Areces.

Lluís Montoliu
Main coordinator. 

José Carlos Segovia
Deputy coordinator.

SESSION I: Introduction to gene editing in human rare diseases

 

Chairs: 
Lluís Montoliu
José Carlos Segovia

09:45

Origin and applications of CRISPR technology

Francisco J.M. Mojica
Universidad de Alicante.

10:45

Gene editing in human rare diseases

Pietro Genovese
SR-TIGET, San Raffaele Telethon Institute for Gene Therapy Milan, Italia.

11:45

Break

SESSION II: Cellular models of gene editing in human rare diseases

 

Chair:
José Carlos Segovia

12:15

Generation of cellular models of human rare anemias by CRISPR-Cas9

José Carlos Segovia

13:00

Generation of cellular models of human rare diseases using gene editing

Ángel Raya
Centro de Medicina Regenerativa de Barcelona (CMRB).

13:30

USH2A gene editing using the CRISPR system

José María Millán
IIS-Hospital La Fe.
CIBERER-ISCIII, Valencia.

14:00

Break

SESSION III: Animal models of gene editing in human rare diseases

 

Chair:
Lluís Montoliu

16:00

Deciphering the pathophysiology of diseases associated with copy number variation and intellectual abilities in rodent models

Yann Hérault
Institut of Genetic, Molecular and Cellular Biology (IGBMC). CELPHEDIA-PHENOMIN, Institut Clinique de la Souris (ICS). Centre national de la recherche scientifique (CNRS). Institut national de la santé et de la recherche médicale (INSERM). University of Strasbourg, Illkirch, France.

17:00

New CRISPR-derived animal models of albinism

Lluís Montoliu

17:30

Animal models of gene editing in human rare diseases: hereditary hearing loss

Ángel Moreno-Pelayo
Servicio de Genética, IIS-Hospital Ramón y Cajal (IRYCIS) CIBERER-ISCIII, Madrid.

Friday 26

SESSION IV: Development and technologic innovation in gene editing

 

Chair:
Lluís Montoliu

09:00

Defining and Optimizing Genome Editing Technologies for Therapeutics

Shengdar Tsai
St. Jude Children's Research Hospital, Memphis, TN, USA.

09:45

Genome editing with CRISPR-Cas9: Can it get any better?

Jean-Paul Concordet
Muséum national d'Histoire naturelle, MNHN, Paris, France.

10:30

Optimized CRISPR-Cas9 genome editing for genome rearrangements

Raúl Torres  
Centro Nacional de Investigaciones Oncológicas & Instituto Josep Carreras. Madrid.

10:50

Bioinformatic algorithms in gene editing

Juan Carlos Oliveros
Centro Nacional de Biotecnología, CNB-CSIC, Madrid. 

11.10

Precise and efficient editing of mammalian genomes

Marc Güell  
Universidad Pompeu Fabra, Barcelona.

11:30

Break

SESSION V: Gene editing in gene therapy of human rare diseases

 

Chair:
José Carlos Segovia

12:00

Genome Editing of Hematopoietic Stem Cells to Treat Genetic Diseases of the Blood and Immune System

Matthew Porteus
Stanford University, School of Medicine, Stanford, CA, USA.

13:00

Therapeutic potential of in vivo genome editing for inherited metabolic diseases

Juan R. Rodríguez-Madoz
Centro de Investigación Médica Aplicada (CIMA), Universidad de Navarra.

13:30

NHEJ-mediated Gene Editing: A new approach to correct different mutations in Fanconi Anemia Hematopoietic Stem and Progenitor Cells

Paula Rio
CIEMAT, CIBERER-ISCIII and IIS-FJD. Madrid.

14:00

Break

SESSION VI: Gene editing and bioethics

 

Chair:
Lluís Montoliu

16:00

Gene editing and bioethics

Ana Sofía Carvalho
Institute of Bioética, Univ. Católica Portuguesa, Porto, Portugal and European Group of Ethics (EGE).

17:00

Bioethics of gene editing in animal research

Lydia Teboul
The Mary Lyon Centre, MRC-Harwell, UK.

17:30

Bioethics of gene editing in human research

Gemma Marfany  
UB, Departamento de Genética, Comisión de Bioética de la UB y CIBERER-ISCIII, Barcelona.  

18:00

General discussion and closing remarks
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