Concurrent Sessions

Monday, May 7, 2006, 15.00 - 16.30 hrs - Room B

C09. Therapy for genetic disease

C52. Evidence of in vivo increase of SMN RNA and protein in SMA carriers and patients treated with valproic acid
L. Brichta¹, I. Hölker¹, K. Haug², T. Klockgether³, B. Wirth¹;
¹Institute of Human Genetics, Institute of Genetics and Center for Molecular Medicine Cologne, Cologne, Germany, ²Institute of Human Genetics, University of Bonn, Germany, ³Department of Neurology, University of Bonn, Germany.

C53. Valproic acid stimulates ABCD2 gene expression: a novel potential therapy for X-adrenoleukodystrophy
A. Pujol¹, S. Fourcade¹, L. Brichta², E. Hahnen², P. Aubourg³, B. Wirth², J. Mandel⁴;
¹IRO/IDIBELL, Barcelona, Spain, ²Institute of Human Genetics, Cologne, Germany, ³INSERM U561, Université Paris V, Paris, France, ⁴IGBMC, Illkirch, Strasbourg, France.

C54. Pharmacologic Chaperone AT2101 Improves the Trafficking and Activity of Acid-ß-Glucosidase in Gaucher Fibroblasts
S. Kornfeld¹, B. Wustman²;
¹2Department of Internal Medicine, Washington University School of Medicine, , MO 63110, USA., Saint Louis, MO, United States, ²Amicus Therapeutics, Cranbury, NJ, United States.

C55. Intrabody-based therapy for protein aggregation disorders: OPMD as paradigm
P. Verheesen¹, A. de Kluijver¹, S. van Koningsbruggen², H. de Haard³, G. J. van Ommen², T. Verrips¹, S. M. van der Maarel²;
¹Department of Molecular and Cellular Biology, University of Utrecht, Utrecht, The Netherlands, ²Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands, ³Ablynx NV, Ghent, Belgium.

C56. Advances in exon skipping trial development towards proof-of-concept and systemic application in Duchenne Muscular Dystrophy
J. T. C. van Deutekom¹, H. Heemskerk¹, C. de Winter¹, P. van Kuik², S. de Kimpe², G. Platenburg², G. J. B. van Ommen¹;
¹Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands, ²Prosensa B.V., Leiden, The Netherlands.

C57. Clinical burden and penetrance of haemochromatosis: estimates derived from routine data
C. Patch, H. Yuen, P. Roderick, W. Rosenberg;
University of Southampton, Southampton, United Kingdom.