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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

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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

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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?