Fédération Française de Génétique Humaine

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4th advanced course: "Genetics of Intellectual Disability: an update"

Début Jeudi 25 Juin 2015
Fin Samedi 27 Juin 2015

The aim of this course is to provide an update on the genetic basis of intellectual disability (ID). This is a timely training course, directed to health professionals dealing with ID patients and families, aiming to provide a state-of-the-art overview of (i) the current diagnostic possibilities and (ii) the recent concepts concerning the pathogenesis and treatment of these disorders. On a practical perspective, the course also aims to make the students familiar with a set of information seeking/managing tools that can provide some support in the complex task of managing a patient with ID.

REGISTRATION AND MORE INFORMATION: www.ecsaude.uminho.pt/pg/intellectual-disability

 

 Thursday, June 25th 2015
 08h45 Registration at the ICVS/ECS hall
 09h00 Welcome address
 09h15 The clinical and genetic diagnosis process in intellectual disability
[Raoul Hennekam, Amsterdam]
 10h30 Coffee break
 11h00 Genetic variation and disease - an introduction
[Patricia Maciel]
 12h00 Novel technical possibilities for genetic diagnosis of intellectual disability
introduction to aCGH and NGS methodologies
[Mafalda Barbosa]
 13h00 Lunch break
 14h30 Hands-on introduction to Genetic Databases
[Patricia Maciel, Fátima Lopes and Mafalda Barbosa]
 16h30 Coffee-Break
 17h00 From clinic to gene and back - the example of Fragile X
[Jean Louis Mandel]
 18h00 Students papers/activities
  Dinner at the historic center of Braga
 Friday, June 26th 2015
 09h00 Gene identification in intellectual disability using genomic approaches:
what have we learned about pathogenesis?
[Mike Talkowski, Harvard Med School]
 10h15 Coffee break [with posters from participants]
 11h00 Genetics of cortical malformation and intellectual disability
[Jamel Chelly]
 12h00 12h00 Finding novel genes underlying Rett syndrome-like clinical presentation
[Fátima Lopes]
 12h30 Mutation or not mutation, that is the question
[Jean-Louis Mandel]
 13h00 Lunch break
 14h30 Copy number variations as risk factors for neurodevelopmental disorders
[Patricia Maciel]
 15h00  Epigenetics and intellectual disability
[Mike Talkowski]
 16h00 Coffee-Break  [with posters]
 16h30 Round table:
Translation of novel genetic approaches to the clinical context - benefits and challenges
[Jean-Louis Mandel, Mafalda Barbosa, Raoul Hennekam, Mike Talkowski]
 17h00 New models for study of nervous system disease mechanisms: human inducible pluripotent stem cells
[Luis Pereira de Almeida]
 18h00 Round Table:
Gene discovery in ID and autism spectrum disorders - challenges and approaches
[Jean-Louis Mandel, Mike Talkowski, Astrid Vicente]
 Saturday, June 27th 2015
 09h00 Neuroimaging in ID research
[Adriana Sampaio]
 10h00 From animal models to clinical trials in intellectual disability: the case of Rett syndrome [TBA]
 11h00 Coffee break
 11h20 From animal models to clinical trials in intellectual disability:
the case of Down syndrome
[Mara Dierssen, Barcelona]
 12h20 Closure; evaluations
 12h40 Farewell
Lieu : Braga | Portugal

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