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International Symposium: Diagnosis and therapies in diseases with telomere shortening: dyskeratosis congenita and pulmonary fibrosis

Life and Matter Sciences | Madrid, September, 20 and 21st, 2018

Program


Coordinators:
Rosario Perona 
CSIC/UAM and CIBERER-ISCIII Madrid 
María Molina Molina
IDIBELL and CIBERES-ISCIII Barcelona  


Thursday, September 20th

9:30 Welcome and presentation
Federico Mayor Zaragoza
Fundación Ramón Areces.
José María Medina
Fundación Ramón Areces.
Rosario Perona
Coordinator.
María Molina Molina
Coordinator.

SESSION I: Clinical consequences of telomeropathies
Chairs:
Rosario Perona
Coordinator.
María Molina Molina
Coordinator.

9:45 Advancing Understanding Dyskeratosis Congenita and Related Telomere Biology Disorders: Challenges and Opportunities
Sharon Savage
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, USA.

10:45 Human telomere disorders due to RTEL1 deficiency.
Patrick Revy
Imagine Institute, Paris. France. 

11:30 Break

 SESSION II: Genetic diagnosis: Telomeres and genes involved in telomeropathies
Chair:
Leandro Sastre  
Instituto de Investigaciones Biomédicas, CSIC/UAM. CIBERER/ISCIII. Madrid. Spain.

12:15 NGS for Dyskeratosis Congenita diagnosis: CIBERER experience
Julián Sevilla
Hospital Niño Jesús. CIBERER/ISCIII. Madrid, Spain.

12:30 Role of genes that regulate DNA damage response in patients of dyskeratosis congenita and pulmonary fibrosis
Leandro Sastre
Chair.

12:45 Telomere control of heart regeneration
Ignacio Flores
Centro Nacional de Investigaciones Cardiovasculares (CNIC). Madrid, Spain.

13:15 Mice model for hipoxia and lung emphysema
Vincent Geli
Centre de Recherche en Cancerologie de Marseille. Marsella. France.

13:45 Break

SESSION III: Dyskeratosis congenita and associated hematopoietic disorders
Chair:
Julián Sevilla
Hospital Infantil Universitario NIño Jesús. CIBERER/ISCIII

16:00 Diverse causes of telomere shortening and disease manifestations present in childhood
Alisson Bertuch
Baylor College of Medicine/Texas Children´s Hospital, Houston TX, USA.

17:00 Dyskeratosis congenita and related hematopoietic disorders
Inderjeet Dokal
Centre for Genomics and Child Health Blizard Institute. London, United Kingdom.

18:00 Asociación de pacientes DC Outreach
Katie Stevens
DC Outreach. New York, USA.

18:15 SESSION´S END

Friday, September 21st

SESSION IV : Idiophatic Pulmonary fibrosis
Chair:
María Molina Molina
IDIBELL, CIBERES/ISCIII

9:00 Telomerase and IPF. Implications for Pathogenesis Paradigms and Patient Care
Mary Armanios
Johns Hopkins Hospital. Baltimore. USA.

10:00 Pulmonary fibrosis. Clinical implications of telomere shortening
María Molina Molina 
Chair.

10:30 Mouse models to understand the role of short telomeres at the origin of telomere diseases and as preclinical models for telomerase-based treatments
María Blasco
Centro Nacional de Investigaciones Oncológicas. Madrid, Spain.

11:30 Break

 
SESSION V: Future therapeutic strategies for telomeropathies.

Rosario Perona
Chair,

12:00 Age-associated abnormal recapitulation of developmental pathways in the pathogenesis of IPF
Moisés Selman 
Instituto Nacional de Enfermedades Respiratorias "Ismael Cosío Villegas", Mexico 

12:45 Reactivation of telomerase activity in dyskeratosis congenita and pulmonary fibrosis
Rosario Perona 
Chair.

13:15 Modeling X-linked dyskeratosis congenita in hematopoietic stem cells and gene therapy approach for the treatment of bone marrow failure
Guillermo Guenechea 
Centro de Investigaciones Energéticas y Medioambientales y Tecnológicas (CIEMAT)/CIBERER/ Instituto de Investigación Sanitaria Fundación Jimenez Diaz (IIS-FJD), Madrid, Spain. 

13:45 Patient´s Associations for idiopthatic pulmonary fibrosis, a spanish and european perspective
Carlos Lines
Asociación de Pacientes y enfermos de fibrosis pulmonar idiopática (AFEFPI).

14:00 General discussion and closing remarks

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