Scientific programme
Wednesday, September 29th, 2010
14:00-14:30 Welcome and Introduction
Leopoldina Early Career Award (funded by the Commerzbank-Stiftung)
Session I: Dominant and X-linked MR
Chair: Wieacker/Wieczorek
14:30 André Reis
Dominant forms of mental retardation
15:00 Hans-Hilger Ropers
X-linked forms of mental retardation
15:30 Simone Berkel
Mutations in the SHANK2 synaptic scaffolding
gene in autism spectrum disorders and mental
retardation affect dendritic spine morphology
15:45 Georg Rosenberger
Mutations in GRIN2A and GRIN2B encoding
regulatory subunits of NMDA receptors cause
variable neurodevelopmental phenotypes
16:00 Luciana Musante
The XLMR protein PQBP1 plays a role in
alternative splicing
Session II: Autosomal Recessive MR
Chair: Ropers/Engels
16:45 Andreas Kuss
Unravelling the molecular basis of autosomal recessive intellectual disability: The Berlin experience
17:15 Laurence Colleaux
Unravelling the molecular and pathophysiological bases of autosomal recessive mental retardation: The Paris experience
17:45 Anita Rauch
Disturbed Wnt signalling due to mutations in
CCDC88C causes autosomal recessive nonsyndromic
hydrocephalus
18:00 Andreas Tzschach
Next generation sequencing in a family with
autosomal recessive Kahrizi syndrome reveals
a homozygous frameshift mutation in SRD5A3
Keynote Lecture I
Chair: Strom
18:30-19:15 Matthew Hurles
Next generation sequencing - promises and pitfalls
19:30 - Get together with poster exhibition
Thursday, September 30th, 2010
Session III: Copy number variation and MR
Chair: Rauch/Schröck
09:00 Nigel Carter
Deciphering Developmental Disorders
09:45 Denise Horn
Identification of FOXP1 deletions in three
unrelated patients with mental retardation and
significant speech and language deficits
10:00 Janneke H.M. Schuurs-Hoeijmakers
Identifying MR genes associated with CNVs
<Keynote Lectures II & III
Chair: Rappold/Reis
11:00 Daniel Geschwind
Autism genetics: at the crossroads of genomics and cognitive neuroscience
11:45 Daniellele Posthuma
Genetic foundations of human intelligence
Session IV: Neurodevelopment and MR
Chair: Antonarakis/Geschwind
14:00 Markus Missler
Synaptic cell-adhesion molecules and the aetiology of ASDs/MR
14:30 Jamel Chelly
Neuronal migration defects
15:00 Jacques L. Michaud
De novo mutations in synaptic genes associated with non-syndromic mental retardation
Friday, October 1th, 2010
Session V: Molecular Networks in MR I
Chair: Schenck/Hempel
09:00 Eric Legius
RAS-pathway
09:30 Linda van Aelst
Role of Rho regulators in neurodevelopment and disease
10:00 Patrizia D'Adamo
Mutations in the small GTPase gene RAB39B
are responsible for X-linked Mental Retardation
associated with autism, epilepsy and
macrocephaly
10:15 Christian Thiel
Disruption of the histoneacetyltransferase
MYST4 leads to a Noonan syndrome-like
phenotype and hyperactivated MAPK signaling
Session VI: Molecular Networks in MR II
Chair: Rieß/van Aelst
11:00 Annette Schenck
Dissection of molecular networks and common mechanisms in Drosophila
11:30 Hans van Bokhoven
Genetic and epigenetic networks in cognitive dysfunction (GENCODYS)
12:00 Merel Oortveld
A first systematic evaluation of MR gene
function in neuronal development
Keynote Lecture IV
Chair: Reis
13:45 Stephen T. Warren
Fragile X syndrome: Molecular mechanisms and therapeutic implications
14:30 André Reis
Closing remarks