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Undiagnosed and rare diseases in children and adolescents: Translation to clinic and society

Life and Matter Sciences International Symposium Wednesday and Thursday, November 27 and 28, 2019 9:30 hours Barcelona

General information:

Venue: Hospital Sant Joan de Déu - Auditori Sant Joan de Déu, Edifici docent, 1ª planta (acceso por planta 0). C/ Sta. Rosa 39. 08950 Esplugues de Llobregat (Barcelona). 

Free admission. Limited capacity. 

Organized by:

Fundación Ramón Areces

In cooperation with:

Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER and Hospital Sant Joan de Déu


Francesc Palau. Hospital Sant Joan de Déu, Barcelona. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER).


  • Description
  • Programme

Rare diseases make up a medical category based on the low prevalence of each of the nosologic entities that comprise it. The use of the category of rare diseases has greatly helped the doctors and the health professionals to recognize them in the academic curriculum and clinical practice and, above all, that the people who suffer them have a social recognition while sharing different aspects that bring them closer to themselves and their families.

Rare diseases are a health problem that must be addressed from the postulates of public health and from comprehensive care of the health system. Faced with the loss of health of a person because of suffering from a rare disease, usually severe, invalidating and chronic, the first point to take into account is its recognition as such, that is to reach a diagnosis. The medical diagnosis supposes to know, at least in part, the natural history of the pathological process and its prognosis, the associated clinical problems so that they can be anticipated, and to implement preventive or prophylactic treatments or interventions. This is especially relevant in the child, because the child's life history is affected from very early on, which is a biography associated with the rare disease. In this sense, when the disease does not have a diagnosis, the entire biological, psychological and social process of the child or adolescent and of his/her own family is affected. Not a few children lack an early diagnosis of what we assume is a rare disease (or a rare presentation of a more common disease). It is understood that the diagnosis is not only the basis of medical practice but also an imperative need for the person and for those responsible for the health of the sick person. 

In this symposium we want to address the problem of undiagnosed diseases and patients without diagnosis.


Wednesday, November 27

9:30 h.

Welcome and introduction

Federico Mayor Zaragoza 
Presidente Consejo Científico de la Fundación Ramón Areces.

Pablo Lapunzina 
Director Científico del Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER.

Francesc Palau 
Hospital Sant Joan de Déu y CIBERER, Barcelona, España.

Session 1: The framework of undiagnosed and rare diseases

Chairman: Antoni Riera-Mestre 


10:00 h.


Undiagnosed and Rare Diseases: an overview Brett Bordini
Children’s Hospital of Wisconsin, Milwaukee, USA.

10:30 h.

The Undiagnosed Diseases Networks 

David Adams
National Institutes of Health, Bethesda, USA.


11:00 h.

The CIBERER Program on Undiagnosed Diseases

Beatriz Morte
Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Madrid, Spain.


11:30 h.



11:45 h.


Session 2: Genes and Genomes

Chairwoman: Carmen Ayuso 


12:15 h.


The genome as target for genetic diagnostics

Gert Matthijs 
Center for Human Genetics in Leuven, University of Leuven, Belgium.


12:45 h.

Shared genes for unrelated disorders

Nicolas Lévy
Faculté de Medicine et Hôpital de la Timone, Marseille, France.


13:15 h.


13:30 h.


Session 3: Clinical and integrative programs in URD

Chairman: Guillem Pintos 


15:30 h.


Hospital-based programs on URD: the General Hospital

José Hernández-Rodríguez
Hospital Clínic, Barcelona, Spain.

16:00 h.

Hospital-based programs on URD: the Children’s Hospital

Francesc Palau
Hospital Sant Joan de Déu, Barcelona, Spain.

16:30 h.

Translational research in undiagnosed and rare diseases

Hanns Lochmuller
 Children’s Hospital of Eastern Ontario, Ottawa, Canada.

17:00 h.



Thursday, November 28

Session 4: Clinical genomics, functional genomics and experimental biology in diagnosis

Chairwoman: Antònia Ribes 


9:30 h.


Networks for the genomic approach of undiagnosed diseases: the URDCat project

Sergi Beltran
Centro Nacional de Análisis Genómico (CNAG), CRG, Barcelona, Spain.

10:00 h.

3D bioinformatics and variant classification for disease diagnosis and mechanisms

Raul Urrutia
Medical College of Wisconsin, Milwaukee, USA.

10:30 h. 

Cell models of genetic rare diseases

Frederic Tort
Institut de Bioquímica Clínica, Hospital Clínic, CIBERER, Barcelona, Spain.

11:00 h.



11:15 h.


Session 5: Therapies and future

Chairman: Jordi Quintana  


11:45 h.


Drug screening and discovery

Jordi Surrallés
Hospital Sant Creu i Sant Pau, Universitat Autònoma de Barcelona, and CIBERER, Barcelona, Spain.

12:15 h.

Gene therapies

Cristina Fillat
IDIBAPS and CIBERER, Barcelona, Spain.

12:45 h.

Gene editing

Marc Güell
Departamento de Ciencias Experimentales y de la Salud, Universidad Pompeu Fabra. Barcelona. Spain.

13:15 h.



13:30 h.

Closing remarks 
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