CONFERENCE PROGRAMME

Thursday, 30th October 2008

Time:	Event:	Venue:
15.00 - 18.00	Registration	Brehon Hotel
16.30 - 18.00	General Meeting NF Europe	Gleneagle Hotel
16.00 - 18.30	Workshop: Facilitation of the classification of neurofibromas Chairpersons: Prof Victor Mautner, Prof Pierre Wolkenstein Clinical aspects: Susan Huson Natural history and volumetric analysis: Bruce Korf Pathology of neurofibromas: Anat Stemmer-Rachamimov Development of neurofibromas: Juha Peltonen Imaging of whole body MRI and potential treatment: Victor Mautner Summary: Victor Mautner, Pierre Wolkenstein	Brehon Hotel
19.15 - 20.15	Welcome to Killarney / Civic Reception	Brehon Conf. Suite

Clinical Aspects of NF1
Chairs: Vic Riccardi, Bruce Korf

Time:	Topic:	Speaker:
09.00 - 09.15	Opening Ceremony	Paddy Griffin NF Ireland & Prof Meena Upadhyaya
09.15 - 09.50	Predicting severity of NF1: where are we now?	Susan Huson
9.50 - 10.00	(Health related) Quality of life in children with NF1 contribution of demographic factors, disease-related factors and behaviour	Lianne C Krab
10.00 - 10.10	Contribution of genetic factors to variable expression of NF1	Audrey Sabbagh
10.10 - 10.20	Speech characteristics induced by NF1	Lotta Alivuotila
10.20 - 10.40	Coffee Break
10.40 - 11.15	The natural history and treatment of neurofibromas	Bruce Korf
11.15 - 11.25	Phenotype of NF1 and post-radiotherapy for optic glioma: a case control study	T Duong
11.25 - 12.00	Benign and malignant peripheral nerve sheath tumours in NF1	Ros Ferner
12.00 - 12.10	Basal ganglia t2-hyperintensities correlate with cognitive impairments in NF1 during childhood	P. Castelnau
12.10 - 13.10	Lunch Break

Clinical Aspects of NF2 / Schwannomatosis
Chairs: Marco Giovannini, David Viskochil

Time:	Topic:	Speaker:
13.10 - 13.45	NF2: a clinical and molecular update	Gareth Evans
13.45 - 14.20	Modelling NF1 in the mouse: CNS, plexiform and dermal neurofibromas	Luis Parada
14.20 - 14.55	Schwannomatosis: how many genes are there?	Gareth Evans
14.55 - 15.30	Molecular pathology of Neurofibromas and Schwannomas	Anat Stemmer-Rachamimov
15.30 - 15.45	Multiple Schwannomas and PNF - a new syndrome?	Dusica Babovic-Vuksanovic
15.45 - 16.10	Coffee Break

Bone Abnormalities in NF1
Chairs: Andrew Green, Pierre Wolkenstein

Time:	Topic:	Speaker:
16.10 - 16.45	Skeletal abnormalities in NF1	David Viskochil
16.45 - 17.05	NF1 sibling controlled bone study in British Columbia Body DXA	Patricia Birch
17.05 - 17.15	Chondrocyte-specific deletion of neurofibromin in mice	Boris Thurisch
17.15 - 17.25	The role of NF1 during joint development	Nadine Kossler
17.25 - 18.20	Poster Viewing

Time:	Topic:	Speaker:
09.00 - 9.05	Introduction and messages

Molecular Biology of Tumours in NF1
Chairs: Luis Parada, Victor Mautner

Time:	Topic:	Speaker:
09.05 - 9.40	Development of neurofibromas	Juha Peltonen
9.40 - 10.15	Molecular genetics of NF1 tumours: Genome - profiling of NF1-associated tumours	Meena Upadhyaya
10.15 - 10.30	Genetic analysis of peripheral nerve sheath tumours in NF1 patients	Eline Beert
10.30 - 10.40	Two sporadic spinal neurofibromatosis patients with malignant peripheral nerve Sheath tumours	Katharina Wimmer
10.40 - 10.55	Glomus tumours of the fingertips and NF1: clinical and molecular aspects	Eric Legius
10.55 - 11.30	Coffee Break
11.30 - 12.30	Poster Session
12.30 - 13.30	Lunch Break

NF1 Mutation Analysis and Molecular Diagnosis
Chairs: Nancy Ratner, Patrick Morrison

Time:	Topic:	Speaker:
13.30 - 14.05	Molecular dissection of NF1 clinical subtypes	Ludwine Messiaen
14.05 - 14.15	Characterisation of microdeletions involving the NF1 gene and flanking sequences through chromosomal comparative hybridisation	E Pasmant
14.15 - 14.25	Further evaluation of NF1 gene deletion endpoints in 48 unrelated NF1 microdeletion patients	Gill Spurlock
14.25 - 14.35	Importance of Coronin 1A and APP in neurofibromin functions	Sukriye Ayter

RAS/MAPK Pathways
Chairs: Meena Upadhyaya and Romano Tenconi

Time:	Topic:	Speaker:
14.35 - 15.10	The RAS/MAPK Syndrome	Eric Legius
15.10 - 15.20	Identification of SPRED1 mutations in 3 families with a neurofibromatosis type 1-like phenotype	E Pasmant
15.20 - 15.30	SPRED1 mutation analysis in NF1 patients	Emma Bennett
15.30 - 15.45	SPRED1 is required for synaptic plasticity and hippocampus-dependent learning	E Denayer
15.45 - 16.15	Coffee Break

Mouse Models, Preclinical and Clinical Trials
Chairs: Eric Legius and Gareth Evans

Time:	Topic:	Speaker:
16.15 - 16.50	Preclinical Mouse Models of NF 2	Marco Giovannini
16.50 - 17.25	Molecular and cellular mechanisms underlying the learning disabilities associated with NF1: from lab-to-clinic	Alcino Silva
17.25 - 17.40	The effect of simvastatin on cognitive functioning in children with NF1: a randomized, double blind, placebo-controlled trials	Lianne C Krab
17.40 - 18.15	Preclinical trials on mouse models	Nancy Ratner

Medical & Lay Groups Together - Brehon Hotel Conference Centre
Chairs: Vic Riccardi and Susan Huson

Time:	Topic:	Speaker:
09.00 - 09.05	Messages
09.05 - 09.20	The Brazil Experience	Elane Frossard Barbosa
09.20 - 09.30	NF1 personal experience	Martin Krebs
09.30 - 10.00	Your Questions Answered	Susan Huson
10.00 - 10.10	Tumours caused by merlin mutation	C Oliver Hanemann
10.10 - 10.20	A family perspective	Therese Buckley
10.20 - 10.30	The missing dimension: what can the British GP do for the patient with NF?	Geoff Bar
10.30 - 10.50	Coffee Break
10.50 - 11.15	Psychological Aspects of NF1	Andrew Green
11.15 - 11.45	NF1 in childhood growth and development	Patrick Morrison
11.45 - 11.55	Children's Tumour Foundation	Min Wong
11.55 - 12.10	14th Neurofibromatosis Meeting Norway	Arvid Heiberg
12.10 - 12.20	NF Europe - Update	Mia Desmet
12.20 - 12.30	Summary	Vic Riccardi
12.30 - 12.45	Close	Martin Tully, President
12.45	Lunch

NF Europe