4th advanced course: "Genetics of Intellectual Disability: an update" |
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Début Jeudi 25 Juin 2015
Fin Samedi 27 Juin 2015
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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
| 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 |
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Dinner at the historic center of Braga |
| 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] |
| 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 |
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Lieu : Braga | Portugal |
