INVITED AND SPECIAL SESSIONS
Thursday, October 27
2:00 PM-4:30 PM
Concurrent Platform Sessions II (33-39) Click on abstract number to view full text
SESSION 37 - Toward Therapy of Genetic Disorders: Detection, Pharmacogenetics, and Model Systems
Ballroom A-D
Co-Moderators: Chester B. Whitley, University of Minnesota, Minneapolis; and Jerry Vockley, University of Pittsburgh, PA
117/2:00 Newborn screening reveals high incidence of later-onset Fabry disease: Implications for detection of later-onset, but treatable inherited disorders. M. Spada, S. Pagliardini, M. Yasuda, G. Thiagarajan, A. Ponzone and R. J. Desnick.
118/2:15 Perfect Sensitivity and Specificity of Plasma Catechol Measurements for Neonatal Diagnosis of Menkes Disease. C. S. Holmes and S. G. Kaler.
119/2:30 Validation of pharmacogenetic data necessary to put personalized medicine into practice in rheumatoid arthritis. A. Taniguchi, S. Furihata, W. Urano, M. Yamanaka, E. Tanaka, H. Yamanaka and N. Kamatani.
120/2:45 A novel genome-wide approach to finding determinants of chemotherapeutic susceptibility. S. J. Shukla, J. A. Badner, X. Wu, W. Zhang, C. Cheng, W. K. Bleibel and M. E. Dolan.
121/3:00 A predictive bar-code for cancer therapy based on kinase inhibitors. A. Killian, R. Sesboue, G. Raux, J.-M. Flaman, F. Le Pessot, F. Di Fiore, B. Paillot, P. Michel and T. Frebourg.
122/3:15 Sequential morphology (phenotype)/FISH (genotype) assessment by targeting plasma cells greatly improves residual disease detection in multiple myeloma. M. L. Slovak, V. Bedell, K. Pagel, L. Weiss and G. Somlo.
123/3:30 Incomplete processing of mutant lamin A in HGPS leads to nuclear abnormalities, which are prevented by farnesyl-transferase inhibition. M. W. Glynn and T. W. Glover.
124/3:45 TGFb-induced failure of satellite cell performance and muscle regeneration in mouse models of Marfan syndrome and other myopathic states. R. D. Cohn, J. Pardo, B. L. Loeys, T. M. Holm, D. P. Judge and H. C. Dietz.
125†/4:00 AT1 blockade rescues multisystem manifestations of Marfan syndrome independent of hemodynamic effects. J. P. Habashi, T. Holm, B. L. Loeys, D. Bedja, E. R. Neptune, D. P. Judge and H. C. Dietz.
126/4:15 Dietary methyl donors modify the phenotype of a Rett syndrome mouse model. P. Moretti, C. P. Schaaf, R. Teague, C. Pedroza, O. Smith and H. Zoghbi.
