10th INTERNATIONAL
MEETING
on CNVs and Genes in
Intellectual Disability
and Autism
April 16-18, 2015
La Cittadella dell’Oasi
Troina - EN (Italy)
FINAL PROGRAM
SCIENTIFIC COMMITTEE
B de Vries
F Kooy
H Mefford
C Romano
ON SITE SCIENTIFIC MANAGEMENT:
Corrado Romano, MD
Unit of Pediatrics and Medical Genetics
Department for Intellectual Disability
Oasi Institute for Research on Intellectual Disability and Brain Aging
Via Conte Ruggero, 73
94018 Troina (EN) – Italy



cromano@oasi.en.it
+39 0935 936285
+39 0935 936533
REGISTRATION, TRIP AND ACCOMMODATION:
Eleonora Di Fatta 
+39 0935 936301  edifatta@oasi.en.it
Rosi Di Giorgio

+39 0935 936374  rdigiorgio@oasi.en.it

+39 0935 936231
Fabio Vezzuto

+39 0935 936462  fvezzuto@oasi.en.it
Thursday, April 16, 2015
9.15-9.30
OPENING ADDRESSES
Antonio Amoroso, President Italian Society of Human Genetics (SIGU)
Raffaele Falsaperla, President Italian Society of Neuropediatrics (SINP)
Maurizio Elia, Scientific Director IRCCS Associazione Oasi Maria Santissima
Corrado Romano, on behalf of the Scientific Committee
9.30-13.30
SESSION 1 on Syndromic Intellectual Disability
Chair: Bert de Vries (Nijmegen, The Netherlands)
9.30-10.00
Opening Keynote Lecture
Bert de Vries (Nijmegen, The Netherlands)
10.00-10.30
David Koolen (Nijmegen, The Netherlands)
Clinical genetic aspects of the Koolen-De Vries syndrome
10.30-11.00
Luis Perez Jurado (Barcelona, Spain)
Reciprocal rearrangements and phenotypes at 7q11.23: Williams-Beuren and the microduplication
syndromes
11.00-11.15
Coffee Break
11.15-11.45
Hitoshi Okazawa (Tokyo, Japan)
In utero treatment for PQBP-1 gene mutations
11.45-12.15
Jozef Gecz (Adelaide, Australia)
PCDH19 epilepsy, autism and intellectual disability limited to females
12.15-12.30
Discussion
12.30-13.30
Short Communications
13.30-15
Lunch
15.00-18.30
SESSION 2 on Animal Models and Functional Genomics
Chair: Frank Kooy (Antwerp, Belgium)
15.00-15.30
Opening Keynote Lecture
Frank Kooy (Antwerp, Belgium)
15.30-16.00
Jean Maurice Delabar (Paris, France)
Modeling prenatal treatments for trisomy 21 in mice
16.00-16.30
Giuseppe Testa (Milan, Italy)
Disease avatars: towards a functional annotation of human genomes by cell reprogramming
16.30-17.00
Peter Kind (Edinburgh, United Kingdom)
Modelling ID/ASD disorders in rats: from synapses to circuits to behavior
17.00-17.15
Discussion
17.15-17.30
Coffee Break
17.30-18.30
Short Communications
Friday, April 17, 2015
SESSION 3 on Epilepsy
Chair: Heather Mefford (Seattle, USA)
9.30-10.00
Opening Keynote Lecture
Heather Mefford (Seattle, USA)
10.00-10.30
Renzo Guerrini (Florence, Italy)
Malformations of cortical development, intellectual disability and epilepsy: clinical and genetic
findings
10.30-11.00
Ingrid Scheffer (Melbourne, Australia)
Epileptic encephalopathy: Novel genes and phenotypes
11.00-11.15
Discussion
11.15-11.30
Coffee Break
11.30-12.30
Short Communications
12.30-14.00
Lunch
Afternoon and Evening
Social Tour and Dinner
Saturday, April 18, 2015
SESSION 4 on Autism Spectrum Disorders
Chair: Evan Eichler (Seattle, USA)
9.30-10.15
Opening Keynote Lecture
Evan Eichler (Seattle, USA)
10.15-10.45
Caleb Webber (Oxford, UK)
Networks of genes, epistasis and a functionally-clustered genome
10.45-11.15
Silvia De Rubeis (New York, USA)
Synaptic, transcriptional and chromatin genes disrupted in autism
11.15-11.30
Discussion
11.30-11.45
Coffee Break
11.45-12.45
Short Communications
12.45
Closing remarks