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Genomic Medicine

Life and Matter Sciences International Symposium Tuesday and Wednesday, June 4 and 5, 2019 9:30 hours Madrid

General information:

Venue: Fundación Ramón Areces. Calle Vitruvio, 5. 28006. Madrid.

Free admission. Necessary previous online registration. Limited capacity. Simultaneous interpretation.

Organized by:

Fundación Ramón Areces


Pablo Lapunzina INGEMM, Hospital Universitario La Paz y CIBERER-ISCIII, Madrid.

Encarna Guillén Hospital Clínico Universitario Virgen de la Arrixaca, UMU, IMIB y CIBERER-ISCIII. Murcia 


  • Description
  • Programme

Genomic Medicine is a promising new concept for dealing with challenges of health and health systems. With the launch of the International Consortium for Personalised Medicine, which brings together health research funders and policy‐making organizations, European countries aim to coordinate research and health policy to advance the implementation of personalized medicine

The problems and needs of the diagnosis of rare diseases and genetic and genomic studies in our country are: 

1) ) At present, neither the National Health System in its entirety nor the health systems of the CCAA have comprehensive diagnostic centers genetic of high diagnostic capacity that can respond to national needs. This implies that each regional health system has to: a) face the cost of genetic studies deriving them abroad or to private centers; b) not doing so, maintaining waiting lists or replacing them by making studies of lower quality and higher cost, which fail to provide a diagnostic response to patients.

2) There is inequity in access to genetic / genomic diagnoses of patients and citizens depending on the health center, the region / autonomous community to which it belongs and the complexity of the hospitals they consult.

3) Each medium-sized hospital (and sometimes small, regional hospitals) is making unprofitable and expensive investments in the purchase of modern small-sized sequencing technologies, when optimization through the creation of comprehensive genomic diagnostic centers reduces costs and increases the diagnostic power of genetic tests using large, much more cost-effective devices.

4) The objectives of the European Horizon 2020 initiative are to guarantee the diagnosis of all genetic-based diseases and at least 200 treatments by the year 2020.

5) Diagnostic genetic tests are tests already included in the portfolio of services of the Ministry of Health (Order SSI / 2065/2014), but their implementation is slowed down partly due to the problems identified above.

Tuesday, June 4th

9:00 h.

Attendee check-in

9:30 h.

Welcome and presentation

Federico Mayor Zaragoza 
Scientific Council Fundación Ramón Areces.

José María Medina 
Scientific Council Fundación Ramón Areces.

Encarna Guillén 
Hospital Clínico Universitario Virgen de la Arrixaca, UMU, IMIB y CIBERER-ISCIII. Murcia. Coordinator.

Pablo Lapunzina 
Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz y CIBERER-ISCIII. Madrid.

Session 1: Genomic Medicine in the World



 9:45 h.

 Moderator: Julián Nevado


Genomic Medicine: the Global Alliance for Genomics and Health

María Martín
European Molecular Biology Laboratory (EMLB) European Bioinformatics Institute (EBI).

10:25 h.

Genomic Medicine: the French initiative

Yves Levy
Hôpital Henri-Mondor, France.


11:05 h.



11:30 h.

Genomic Medicine in Italy

Domenico Coviello
Ospedale Istituto Giannina Gaslini, Italy.

12:10 h.

Genomic Medicine in the UK. The 100,000 genomes Project

Richard Scott
Genomic England, UK.


12:50 h.

Genome Initiatives in South America. The Equator experience and other experiences in South America

Milton Jijón
Fundación Ecuatoriana de Enfermedades Raras, Ecuador.


13:30 h.



13:45 h.



Session 2: Genomic Medicine in Spain



15:15 h.

 Moderator: Pablo Lapunzina


Genomic Medicine in Spain. A global view

Raquel Yotti
Instituto de Salud Carlos III (ISCIII). Madrid.

16:15 h.

Genomic Medicine in Spain. The Oncology approach

Joaquín Arribas
Centro de Investigación Biomédica en Red Cáncer, CIBERONC - ISCIII. Madrid.

17:00 h.

The 1M Genome Project

Ángel Carracedo
Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER - ISCIII. Universidade de Santiago de Compostela. 


Wednesday, June, 5

Session 3



08:30 h.

 Moderator: Encarna Guillén


Attendee check-in

9:00 h.

The AEGH (Spanish Association of Human Genetics) perspective

Juan Cruz Cigudosa García
Asociación Española de Genética Humana (AEGH). Madrid.

9:45 h.

Orphan drugs and new treatments for rare disease. Impact for Genomic Medicine and health

Josep Torrent
Hospital de la Santa Creu i Sant Pau. Barcelona. 

10:30 h.

The vision of the patients

Alba Ancoechea
Federación Española de Enfermedades Raras (FEDER). Madrid.


11:15 h.



11:45 h.

The report of the Senators about Genomic Medicine

Antonio Alarcó
Senador. Cámara Alta de la Cortes Generales Españolas. Madrid.

José Martínez Olmos
Senador. Cámara Alta de la Cortes Generales Españolas. Madrid.

12:45 h.

A technological and futuristic view of Genomic Medicine

Julián Isla
Health 29. Microsoft Corporation.

13:30 h.

The CIBERER and the Genomic Medicine in Spain

Pablo Lapunzina
Coordinador del simposio.

14:15 h.

Closing remarks and comments


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