The Society for Neuroscience (SfN) Meeting is the premiere neurobiology meeting, with over 30,000 scientists in attendance each year. This year’s meeting was held November 15-19 in Washington D.C. Two dozen presentations on spinal muscular atrophy were given at the meeting, several of which were by scientists funded by Cure SMA.
Cure SMA-funded researchers Drs. Giancomo Comi, Brian Kaspar, Wilfried Rossoll, Chien-Ping Ko, George Mentis, Christine DiDonato, Charlotte Sumner, Barrington Burnett, Ravindra Singh, and Matthew Butchbach joined other prominent SMA researchers in sharing their findings with the broader neuroscience community.
In addition to educating other researchers about SMA, this event also provides a chance for SMA scientists to interact with and learn from researchers who are working on related diseases, such as ALS.
In all, 31,263 attendees from 86 countries presented 13,837 posters—15,510 presenters total. Our thanks to the following presenters for making an impact with the wider scientific community.
SMA Presentations
- An investigation of gene expression changes in motor neurons in a mouse model of spinal muscular atrophy. C. C. PHILLIPS1, A. W. HARRIS3, M. MAEDA4, M. E. R. BUTCHBACH4, M. A. HARRINGTON2; 2Dept. of Biol. Sci., 1Delaware State Univ., Dover, DE; 3Ctr. for Applied Clin. Genomics,, 4Ctr. for Applied Clin. Genomics, Nemours Biomed. Research/Alfred I. DuPont Hosp. for Children, Wilmington, DE
- Survival motor neuron protein expression in motor neurons alters their intrinsic excitability in spinal muscular atrophy. J. LOMBARDO1, L. KONG2, C. J. SUMNER2, M. A. HARRINGTON1; 1Delaware State Univ., Dover, DE; 2The Johns Hopkins Univ., Baltimore, MD
- Astrocytes isolated from transgenic Δ7 SMA mice have altered protein secretion. E. FORAN1, T. NGUYEN1, P. R. LEE2, C. GRUNSEICH1, J. NOFZIGER1, E. S. ARNOLD1, B. BURNETT3, K. FISCHBECK1; 1Neurogenetics Br., Natl. Inst. of Health, NINDS, Bethesda, MD;2Nervous Syst. Develop. and Plasticity Section, Natl. Inst. of Health, NICHD, Bethesda, MD; 3Anatomy, Physiol. and Genet., Uniformed Services Univ. of the Hlth. Sci., Bethesda, MD
- Neuron- astrocyte interactions in synaptic activities in spinal muscular atrophy. C. ZHOU, Z. FENG, C.-P. KO; UNIVERSITY OF SOUTHERN CALIFORNIA, Los Angeles, CA
- Astrocyte mediated toxicity leads to motor neuron death in Spinal Muscular Atrophy. S. PHANI1, A. JACQUIER2, D. PAPADIMITRIOU2, V. LEVERCHE2, R. PRADHAN2, S. KARIYA2, U. MONANI2, *D. B. RE2, S. PRZEDBORSKI2; 1Pathology, 2Neurol., Columbia Univ., NEW YORK, NY
- Defining spinal muscular atrophy gene networks in Drosophila. E. M. MCNEILL1, T. YOKOKURA2, J. YELICK1, T. CHOBANYAN1,2, D. VAN VACTOR1,2; 1Cell Biol., Harvard Med. Sch., Boston, MA; 2Okinawa Inst. of Sci. and Technol., Okinawa, Japan
- Design of AAV-mediated CNS-targeted gene delivery system using neuronal promoters. V. LUKASHCHUK, I. COLDICOTT, P. J. MULCAHY, B. MUSZYNSKI, K. NING, M. AZZOUZ; Univ. of Sheffield, Sheffield, United Kingdom
- Magnetic resonance imaging-guided focused ultrasound use for non-invasive gene delivery to the spinal cord. D. WEBER-ADRIAN1,4, E. THÉVENOT1,4, M. O’REILLY2,5, W. OAKDEN2,5, M. K. AKENS7, N. ELLENS2,5, K. MARKHAM1, A. BURGESS2, J. FINKELSTEIN3,6, A. J. M. YEE2,3,6, C. M. WHYNE2,3,6, K. D. FOUST8, B. K. KASPAR8, G. J. STANISZ2,5, R. CHOPRA2,5,9, K. HYNYNEN2,5, I. AUBERT1,4; 1Brain Sci. Research, Biol. Sci.,2Physical Sci., 3Ctr. for Spinal Trauma, Div. of Orthopaedic Surgery, Sunnybrook Res. Inst., Toronto, ON, Canada; 4Lab. Med. and Pathobiology,5Med. Biophysics, 6Dept. of Surgery, Univ. of Toronto, Toronto, ON, Canada;7Univ. Hlth. Network, TECHNA Inst., Toronto, ON, Canada; 8Ctr. for Gene Therapy and Dept. of Neurosci., Ohio State Univ. and The Res. Inst. at Nationwide Children’s Hosp., Columbus, OH; 9Radiology, Univ. of Texas Southwestern Med. Ctr., Dallas, TX
- Protective role of olesoxime against wild type alpha-synuclein-induced toxicity in human neuronally differentiated SHSY-5Y cells. C. GOUARNE1, J. TRACZ1, M. GIRAUDON-PAOLI1, V. DELUCA1, M. SEIMANDI1, G. TARDIF1, M. XILOURI2, L. STEFANIS2,3, T. BORDET1,4, *R. M. PRUSS1; 1TROPHOS, Marseille Cedex 9, France; 2Biomed. Res. Fndn. of the Acad. of Athens, Div. of Basic Neurosciences, Athens, Greece; 3Univ. of Athens Med. Sch., Second Dept. of Neurol., Athens, Greece; 4Biotherapies Inst. for Rare Dis., Evry, France
- A method to detect silent carriers of spinal muscular atrophy by analysis of human sperm. M. C. EVANS, M. C. GALLEN, N. J. ROBICHAUD, D. A. HILL, C. D. BRAASTAD, *J. J. HIGGINS, Jr.; Quest Diagnostics, Worcester, MA
- SMA motor neurons show impaired mRNP complex assembly. P. G. DONLIN-ASP1, C. FALLINI1,4, J. P. ROUANET1, M. E. MERRITT1,2, G. J. BASSELL1,3,2, W. ROSSOLL1,2; 1Cell Biol., 2Lab. of Translational Cell Biol., 3Neurol., Emory Univ. Sch. of Med., Atlanta, GA; 4Neurol., Univ. of Massachusetts Med. Sch., Worcester, MA
- Micrornas at the C. elegans neuromuscular junction: Potential sma modifiers? P. J. O’HERN, A. C. HART; Neurosci., Brown Univ., Providence, RI
- Axonal transport and translation of α- and γ-actin mRNAs are altered in Smn-deficient motoneurons. M. MORADI, L. SAAL, R. BLUM, M. SENDTNER; Inst. For Clin. Neurobio., Würzburg, Germany
- Transcriptome profiling of spinal muscular atrophy motor neurons derived from mouse embryonic stem cells. M. E. BUTCHBACH1,4,2,7, M. MAEDA1,4, A. W. HARRIS1, B. F. KINGHAM5, C. J. LUMPKIN1,4, L. M. OPDENAKER6, S. M. MCCAHAN3,2,7, W. WANG1,2; 1Ctr. for Applied Clin. Genomics, 2Ctr. for Pediatric Res., 3Bioinformatics Core Facility, Nemours Biomed. Research/A. I. duPont Hosp. For Children, Wilmington, DE; 4Biol. Sci.,5Sequencing and Genotyping Ctr., 6Ctr. for Translational Cancer Res., Univ. of Delaware, Newark, DE; 7Pediatrics, Thomas Jefferson Univ., Philadelphia, PA
- A stem cell model of motor circuits reveals distinct requirements of SMN for motor neuron survival and function. C. M. SIMON, A. JANAS, F. LOTTI, L. PELLIZZONI, G. MENTIS; Col. of Physicians and Surgeons, Motor Neuron Ctr., New York, NY
- Motor neuron hyperexcitability is induced by non-cell autonomous mechanisms in a mouse model of spinal muscular atrophy. E. FLETCHER, C. SIMON, J. PAGIAZITIS, X. WANG, G. MENTIS; The Ctr. for Motor Neuron Biol. and Dis., Columbia Univ., New York, NY
- Elucidating the degeneration of spinal motor neurons in human models of spinal muscular atrophy. C. XU1, K. DENTON1, X.-J. LI1,2; 1Neruoscience, Univ. of Connecticut Hlth. Ctr., Farmington, CT; 2The university of Connecticut Hlth. Ctr., Stem Cell Inst., Farmington, CT
- Role of a unique RNA structure in regulation of alternative splicing of spinal muscular atrophy gene. N. N. SINGH1, *R. N. SINGH2; 1Biomed. Sci., 2Iowa State Univ., Ames, IA
- iPSC-derived neural stem cells act via kinase inhibition to exert neuroprotective effects in SMARD1. C. SIMONE1, M. NIZZARDO1, F. RIZZO1, M. RUGGIERI1, G. RIBOLDI1, S. SALANI1, M. BUCCHIA1, P. RINCHETTI1, F. PORRO1, N. BRESOLIN1, G. P. COMI1, *S. CORTI2; 1Dept. of Physiopathology and Transplant, 2Univ. of Milan, Milan, Italy
- A high-throughput genome-wide RNAi screen for novel modifiers of survival of motor neuron (SMN) protein levels. E. S. ARNOLD1, R. M. GIBBS1, D. Y. KWON1, S. E. MARTIN2, E. BUEHLER2, R. HUANG1, B. REDAN2, K. H. FISCHBECK1, B. G. BURNETT3; 1Natl. Inst. of Neurolog. Disorders and Stroke, 2Natl. Ctr. for Advancing Translational Sci., NIH, Bethesda, MD;3Dept. of Anatomy, Physiol. and Genet., Uniformed Services Univ. of the Hlth. Sci., Bethesda, MD
- Regulation of SMN and other key pathogenetic events in Spinal Muscular Atrophy (SMA): Moving to RNA-Based treatment strategies. M. BUCCHIA1, M. NIZZARDO1, C. SIMONE1, F. RIZZO1, G. ULZI1, S. DAMETTI1, A. RAMIREZ1, E. FRATTINI1, S. PAGLIARANI1, N. BRESOLIN1, F. PAGANI2, G. P. COMI1, S. CORTI1; 1Univ. of Milan, Milan, Italy; 2Intl. Ctr. for Genet. Engin. and Biotech., Trieste, Italy
- Motor neurons from spinal muscular atrophy patients exhibit hyperexcitability. H. LIU, J. LU, H. CHEN, Z. DU, S.-C. ZHANG; Physiol., Waisman Ctr., MADISON, WI
- Electrophysiological properties of medial motoneurons in a mouse model of mild SMA. K. A. QUINLAN1, C. CHRZASTOWSKI2, C. J. HECKMAN1, C. J. DIDONATO2; 1Physiol., Northwestern Univ. Feinberg Sch. of Med., CHICAGO, IL; 2Pediatrics and Human Mol. Genet., Lurie Children’s Hosp. Northwestern Univ., Chicago, IL
- Loss of TIA1 impairs development of male reproductive organs in a mouse model of spinal muscular atrophy. M. D. HOWELL1, N. N. SINGH1, J. SEO1, E. M. WHITLEY2, R. N. SINGH1; 1Biomed. Sci., 2Vet. Pathology, Iowa State Univ., Ames, IA
- Oxidative stress expands the repertoire of alternatively spliced transcripts of spinal muscular atrophy gene. J. SEO, S. SIVANESAN, M. D. HOWELL, E. W. OTTESEN, N. N. SINGH, M. SHISHIMOROVA, R. N. SINGH*; Biomed. Sci., Iowa State Univ., Ames, Iowa.