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BEGIN:VEVENT
UID:72f3da2fd421938c4b1a6df35c895849
CATEGORIES:Enseignements
SUMMARY:4th advanced course: "Genetics of Intellectual Disability: an update"
LOCATION:Braga | Portugal
DESCRIPTION;ENCODING=QUOTED-PRINTABLE:The aim of this course is to provide an update on the genetic basis of inte
 llectual disability (ID). This is a timely training course, directed to hea
 lth 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 thes
 e disorders. On a practical perspective, the course also aims to make the s
 tudents familiar with a set of information seeking/managing tools that can 
 provide some support in the complex task of managing a patient with ID.\n\n
 \nREGISTRATION AND MORE INFORMATION: www.ecsaude.uminho.pt/pg/intellectual-
 disability\n\n\n \n Thursday, June 25th 2015 08h45Registration at the ICVS/
 ECS hall 09h00Welcome address 09h15The clinical and genetic diagnosis proce
 ss in intellectual disability\n [Raoul Hennekam, Amsterdam] 10h30Coffee bre
 ak 11h00Genetic variation and disease - an introduction\n [Patricia Maciel]
  12h00Novel technical possibilities for genetic diagnosis of intellectual d
 isability\n introduction to aCGH and NGS methodologies\n [Mafalda Barbosa] 
 13h00Lunch break 14h30Hands-on introduction to Genetic Databases\n [Patrici
 a Maciel, Fátima Lopes and Mafalda Barbosa] 16h30Coffee-Break 17h00From cli
 nic to gene and back - the example of Fragile X\n [Jean Louis Mandel]  18h0
 0Students papers/activities Dinner at the historic center of Braga Friday, 
 June 26th 2015 09h00Gene identification in intellectual disability using ge
 nomic approaches:\n what have we learned about pathogenesis?\n [Mike Talkow
 ski, Harvard Med School] 10h15Coffee break [with posters from participants]
  11h00Genetics of cortical malformation and intellectual disability\n [Jame
 l Chelly] 12h0012h00 Finding novel genes underlying Rett syndrome-like clin
 ical presentation\n [Fátima Lopes] 12h30Mutation or not mutation, that is t
 he question\n [Jean-Louis Mandel] 13h00Lunch break 14h30Copy number variati
 ons as risk factors for neurodevelopmental disorders\n [Patricia Maciel] 15
 h00 Epigenetics and intellectual disability\n [Mike Talkowski] 16h00Coffee-
 Break  [with posters] 16h30Round table:\n Translation of novel genetic appr
 oaches to the clinical context - benefits and challenges\n [Jean-Louis Mand
 el, Mafalda Barbosa, Raoul Hennekam, Mike Talkowski] 17h00New models for st
 udy of nervous system disease mechanisms: human inducible pluripotent stem 
 cells\n [Luis Pereira de Almeida] 18h00Round Table:\n Gene discovery in ID 
 and autism spectrum disorders - challenges and approaches\n [Jean-Louis Man
 del, Mike Talkowski, Astrid Vicente] Saturday, June 27th 2015 09h00Neuroima
 ging in ID research\n [Adriana Sampaio] 10h00From animal models to clinical
  trials in intellectual disability: the case of Rett syndrome [TBA] 11h00Co
 ffee break 11h20From animal models to clinical trials in intellectual disab
 ility:\n the case of Down syndrome\n [Mara Dierssen, Barcelona] 12h20Closur
 e; evaluations 12h40Farewell
DTSTAMP:20260410T002155Z
DTSTART;TZID=Europe/Paris;VALUE=DATE:20150625
DTEND;TZID=Europe/Paris;VALUE=DATE:20150628
SEQUENCE:0
TRANSP:OPAQUE
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