Juntos

  


10° Conferencia Mundial Síndrome Cornelia de Lange – 2019Juntos, expertos y familias buscan respuestas, encuentran soluciones y comparten las mejores prácticas. Nuestra comprensión de CdLS se incrementa y las familias están en mejores condiciones para enfrentar los desafíos de criar a sus hijos. Fortalecemos la amistad, en un ambiente emocionalmente seguro. Los padres son apoyados y animados a compartir preocupaciones y celebrar triunfos.

Simposio Científico

El jueves habrá una conferencia de día completo donde se analizarán los desafíos que enfrentan los profesionales que trabajan con alguien afectado por CdLS, donde los problemas como el autismo se complican con problemas médicos. Esperamos que al abordar algunos de estos temas y al considerar un enfoque holístico para el tratamiento y la gestión de las personas afectadas, podremos desarrollar un modelo de atención que pueda compartirse internacionalmente. Esto ayudará a las personas en el futuro. Mostrar el programa completo del simposio

01/08/2019

08:00 : 08:05

Welcome to the professionals by the German and Netherlands chairs of the board.

Gerritjan Koekkoek
Father of Rai
Jürgen Kegel
Padre de Christian
08:05 : 08:30

Introduction on the relevance, consistency and yield of an interdisciplinary approach in Cornelia de Lange syndrome

Gabriele Gillessen-Kaesbach
Prof. Dr. Med. Präsidentin der Universität zu Lübeck
08:30 : 10:15
  1. Genetic causes and molecular mechanisms in CdLS (part I)
  2. Genetic causes and molecular mechanisms in CdLS (part II)
  3. How can animal and cellular models help us understand Cornelia de Lange syndrome?

Questions

Frank Kaiser
Professor of Functional Genetics and Human Genetics, Institute of Human Genetics, University of Lübeck, Germany
Matt Deardorff
MD PhD, Associate Medical Director, Roberts Individualized Medical Genetics Center at Children's Hospital of Philadelphia, USA
David FitzPatrick
Professor of Paediatric Genetics, MRC Human Genetics Unit, Edinburgh, UK
10:15 : 10:30
coffee break
10:30 : 11:45

From Head to Toe and Everything in Between

  1. Clinical follow-up of Cornelia de Lange syndrome: from transversal to specific issues
  2. Clinical Findings due to each of the 7 Genes

Questions

Angelo Selicorni
MD, Director of Pediatric Unit at ASST Lariana Como, Italy
Antonie Kline
11:45 : 12:45
Lunch
12:45 : 13:30

Questions  

Sylvia huisman
MD PhD, Amsterdam University Medical Center, Amsterdam, and Prinsenstichting, Purmerend, The Netherlands.
13:30 : 15:00
  1. Adaptive behaviour, social and emotional development
  2. Exploring and experiencing the world; sensory processing difficulties
  3. The behavioural and cognitive phenotype

Questions

Inge van Balkom
MD PhD, Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, of Lentis Psychiatric Institute, Groningen, The Netherlands
Paul Mulder
MSc, Autism Team Northern-Netherlands, Jonx Department of Youth Mental Health and Autism, of Lentis Psychiatric Institute, Groningen, The Netherlands.
Chris Oliver
Professor of Neurodevelopmental Disorders, Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK
15:15 : 16:30

interactive discussion, including;

  • future strategies and projects, 
  • hypotheses,
  • funding ideas and sources
Frank Kaiser
Professor of Functional Genetics and Human Genetics, Institute of Human Genetics, University of Lübeck, Germany
Sylvia huisman
MD PhD, Amsterdam University Medical Center, Amsterdam, and Prinsenstichting, Purmerend, The Netherlands.
16:30 : 18:00
Sylvia huisman
MD PhD, Amsterdam University Medical Center, Amsterdam, and Prinsenstichting, Purmerend, The Netherlands.
Gabriele Gillessen-Kaesbach
Prof. Dr. Med. Präsidentin der Universität zu Lübeck
Frank Kaiser
Professor of Functional Genetics and Human Genetics, Institute of Human Genetics, University of Lübeck, Germany

Etiquetas:
Creado por Gerritjan Koekkoek el 2019/02/14 11:13

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