DOWNLOAD THE CONGRESS BROCHURE (and the abstracts book)
STATUS 28 FEBRUARY 2012 (the below program could change)
WEDNESDAY 29TH FEBRUARY
REGISTRATION OPENS AT 17:00
OPENING CEREMONY 18:00
Chairwoman: Prof. Susan Gasser, Director of the Friedrich Miescher Institut, Basel
18.00-18.15 Welcome:
ARMIN ZUST, Former Director of Novartis Switzerland
DR GUY MORIN, President of the Executive Council, Canton of Basel-Stadt
18.15-18.30 Impulse:
DR SALAH-DINE CHIBOUT, Novartis Switzerland
18.30-20.00 Referrals :
18.30-19.15 PROF. JAMES R. LUPSKI – Personal Genomes Medical Genomes & Clan Genomics: A personal quest to identify the genetic underpinnings of Charcot-Marie-Tooth neuropathy
19.15.19.45 DR NICK SIREAU – Finding a cure to Black Bone Disease, from a patient’s point of view
19.45-20.00 MRS ANNE-FRANCOISE AUBERSON – ProRaris: The Swiss National Rare Disease Alliance, Switzerland
WELCOME RECEPTION 20:00
THURSDAY 1ST MARCH
MORNING SESSION 8:30 – 12:30
SESSION A: GENE AND CELL THERAPY; STEM CELLS
08.30-08.45 Chairwoman: Dr Marisa Jaconi, University of Geneva, Vice Director of the Swiss Institute of Cell Therapy (SICT)
08.45-09.15 PROF. DIDIER TRONO, SWITZERLAND – A defense against genetic invader turned into a master regulator of mammalian homeostasis
09.15-09.45 DR. ELENA CATTANEO, ITALY – Huntingtin from evolution to pathology via neuroepithelial stem cells
09.45-10.15 PROF. MICHELE DE LUCA, ITALY – Epithelial Stem Cells and Regenerative Medicine
10.15-10.45 Coffee Break
10.45-11.00 Prof. Michael Sinnreich: Proteasomal Inhibition Restores Biological Function of Mis-Sense Mutated Dysferlin in Patient Derived Muscle Cells (Abstract n° C004_2012)
11.00-11.15 Dr Renata Bocciardi: Study of the ACVR1 gene expression and regulation (Abstract n° A003_2012)
11.15-11.30 Dr Alfred S. Lewin: AAV Mediated Gene Therapy in Animal Models of Autosomal Dominant and X-linked Retinitis Pigmentosa (Abstract n° A005_2012)
11.30-12.00 Prof. José-Alain Sahel: Towards a cone-directed comprehensive therapeutic strategy in retinitis pigmentosa (Abstract n° C015_2012)
12.00-12.30 PROF. ETIENNE SOKAL, BELGIUM – Academic development of an advanced therapy medicinal product to address unmet medical need and its transfer to industry to secure final access for all patients
LUNCH 12:30 – 14:00
AFTERNOON SESSION 14:00 – 18:15
SESSION B: DIAGNOSTIC
14.00-14.15 Chairman: Dr Mike Morris, University of Geneva
14.15-14.45 PROF. MEHDI TAFTI, SWITZERLAND – Narcolepsy: A rare autoimmune disease
14.45-15.15 PROF. SABINA GALLATI, SWITZERLAND – Cystic Fibrosis (CF) and CF-related disorders: From single gene testing toward array-based sequence capture and next generation sequencing
15.15-15.30 Dr Pontus Lundberg: Targeted next generation sequencing for clinical diagnostics of patients with myeloproliferative neoplasms (Abstract n° B009_2012)
15.30-15.45 Dr Periklis Makrythanasis: Consanguinity as a means to identify pathogenic recessive mutations (Abstract n° B008_2012)
15.45-16.15 Coffee Break
16.15-16.45 PROF. ANITA RAUCH, SWITZERLAND – Towards a deeper understanding of intellectual disability disorders
16.45-17.15 PROF. HAN BRUNNER, NL – Exome sequencing as a diagnostic tool in patients with unexplained intellectual disability
17.15.17.30 Prof. Ass. Anne McKinney: Mitochondrial dysfunction and Purkinje cell loss in the human spastic ataxia ARSACS (Abstract n° D002_2012)
17.30-17.45 Dr Thorsten Hornemann: Oral L-Serine Supplementation as a Therapy in Hereditary Sensory Autonomic Neuropathy Type 1 (HSAN1) (Abstract n° C001_2012)
17.45-18.15 DR DAVID B SAVAGE, UK – Insights from extreme monogenic insulin resistance syndromes
FRIDAY 2ND MARCH
MORNING SESSION 8:30 – 12:45
SPECIAL SESSION : Transnational Research on Rare Diseases
08.30-08.45 THE ERA-NET E-RARE: DR SOPHIE KOUTOUZOV, FRANCE
08.45-09.15 E-RARE GRANTED PROJECT COORDINATOR: DR. BERND WOLLNIK, GERMANY – CRANIRARE: An E-RARE success story for identifying the pathogenesis of craniofacial malformations
09.15-09.45 DR MARIA MAVRIS, FRANCE – EURORDIS: Patients and Scientists’ involvement in the orphan drug development process
09.45-10.15 Coffee Break
SESSION C: THERAPEUTIC APPLICATIONS
10.15-10.30 Chairman: Prof. Doug Higgs, Institute of Molecular Medicine, John Radcliffe Hospital
10.30-11.00 PROF: DOUGLAS HIGGS, UK – The role of the ATRX chromatin associated protein in human disease
11.00-11.30 PROF. ALAIN FISCHER, FRANCE – Primary immunodeficiencies: from genes to therapy
11.30.12.00 PROF. ECKHARD WOLF, GERMANY – Tailored pig models for rare human genetic diseases
12.00-12.30 PROF. MARY REILLY, UK – Inherited neuropathies 2012– bench to bedside, where are we?
12.30-12.45 Dr. Or Kakhlon: Rapamycin-mediated glycogen synthase inhibition can relieve polyglucosan neurotoxicity in an adult polyglucosan body disease neuronal model (Abstract n° C013_2012)
LUNCH 12:45 – 14:15
AFTERNOON SESSION 14:15 – 18:15
SESSION D: GENOMIC DISORDERS
14.15-14.30 Chairman: Professor Juerg Schifferli, University of Basel
14.30-15.00 PROF. STYLIANOS ANTONARAKIS, SWITZERLAND – Consanguinity and Disease Gene Discovery
15.00-15.30 PROF. SERGEI MIRKIN, USA – Two sides of the same coin: Instability of DNA repeats and mutagenesis at a distance
15.30-16.00 DR. Tewis Bouwmeester, SWITZERLAND – Fragile X Syndrome: from bench to beside
16.00-16.30 Coffee Break
16.30-17.00 PROF. ANDREA SUPERTI-FURGA, SWITZERLAND – The many facets of rare diseases – lessons from genetic disorders of bone
17.00-17.15 Shixu Yan: Frameshift mutations in Hyaline Fibromatosis Syndrome (HFS) reveal the significance of personalized treatment in patients (Abstract n° D001_2012)
17.15-17.30 Dr Sebastien Jacquemont: Mirror phenotypes associated with 16p11.2 rearrangements (Abstract n° D010_2012)
17.30-17.45 Dr Pierre Calvel: Disorders of sexual development: identifying new genes and pathways involved in the sexual determination of the human gonad (Abstract n° D012_2012)
17.45-18.15 PROF. ARNOLD MUNNICH, FRANCE – Advances in genomics and others omics: What benefits for patients?
Print the programm