Sponsored Collaborations

The SMA Foundation has pledged over $60M to the support of basic, translational and clinical research that will accelerate progress towards a treatment for SMA in the near term. For a list of active and completed research projects and programs, please see below. If you wish to apply for funding, please click here .

Active

Charlotte Sumner, M.D. (Johns Hopkins University)

Collection and analysis of SMA autopsy tissues

Evaluating HDAC inhibitors and combination therapy in spinal muscular atrophy mice

PharmOptima, LLC     

Pharmacokinetic and pharmacodynamic analyses in mouse models of SMA

Assay Designs, Inc.   

Development of a quantitative ELISA and antibodies for detection and measurement of SMN protein

Chien-Ping Ko, Ph.D. (University of Southern California)

Synapse loss in the SMNΔ7 mouse model of spinal muscular atrophy

Axon Working Group

Samie Jaffrey, M.D., Ph.D. (Cornell University) Use of axon-specific ablation of SMN to explore RNA

Gary Bassell, Ph.D. (Emory University) Imaging of SMN function in RNA dynamics in motor neurons using lentiviral vectors

Livio Pellizzoni, Ph.D. (Columbia University) Dissecting SMN interactions and RNP assembly activity in motor neurons

Christine Beattie, Ph.D. (The Ohio State University) Using zebrafish motor axons as an assay for SMN function

Livio Pellizzoni, Ph.D. (Columbia University)

Neuronal RNA metabolism and the molecular basis of spinal muscular atrophy

Wesley Thompson, Ph.D.  (University of Texas at Austin)

The role of muscle fibers in the mouse model of type II SMA

Steven Burden, Ph.D. (New York University School of Medicine)

Examining the autonomous role of SMN in muscle development

Cathleen Lutz, Ph.D. (The Jackson Laboratory)

Genetic models for SMA research and therapeutics development

Genoma España  

Eduardo Tizzano, M.D., Ph.D. (Hospital Sant Pau) Defining targets for therapeutics in SMA

Seward Rutkove, M.D. (Beth Israel Deaconess Medical Center)

Measuring disease progression in spinal muscular atrophy through the use of electrical impedance myography

Lee Rubin, Ph.D. (Harvard University)  

Motor neuron screens to identify an effective therapeutic for spinal muscular atrophy

PTC Therapeutics, Inc.  

Discovery and development of small molecule activators of SMN gene expression to treat SMA

Center for Motor Neuron Biology and Disease (Columbia University) 

Darryl De Vivo, M.D. 

Christopher Henderson, Ph.D.

Serge Przedborski, M.D., Ph.D.

Spyros Artavanis-Tsakonas, Ph.D. (Harvard University)  

Invertebrate genetic approaches to identify drug targets for SMA

PsychoGenics, Inc.  

Phenotypic and treatment studies in SMA mice

Pediatric Neuromuscular Clinical Research Network, Infrastructure and Natural History Study

Darryl De Vivo, M.D. (Columbia University)

Rabi Tawil, M.D. (University of Rochester)

Basil Darras, M.D. (Children’s Hospital of Boston)

Richard Finkel, M.D. (Children’s Hospital of Pennsylvania)

Wendy Chung, M.D. (Columbia University)

Completed

George Mentis, Ph.D. (NINDS, NIH)    

Characterization of the physiological mechanisms in motor neuron dysfunction in Spinal Muscular Atrophy

Pilot Study to Identify Biomarkers for Spinal Muscular Atrophy (BforSMA)    

New England Research Institutes (NERI), Administration and data coordination for the BforSMA study

BG Medicine, Inc., Proteomic and metabolomic analyses of plasma and urine samples from the BforSMA study

Expression Analysis, Inc., Gene expression profiling of blood samples from the BforSMA study using the Affymetrix GeneChip® exon array platform and Determination of SMN1 and SMN2 copy number from blood samples from the BforSMA study

Assay Designs, Inc., Analysis of SMN protein levels by ELISA of PBMC samples from the BforSMA study

Christian Lorson, Ph.D.  (University of Missouri)

Generation of a SMN read-through mouse

Gordon Lutz, Ph.D. (Drexel University)

Carrier-oligonucleotide therapeutics for SMA

BG Medicine, Inc.

Plasma biomarkers of drug efficacy in SMA mice

Hans Goebel, M.D. (Johannes Guttenberg University)

Muscle biopsy studies

Jeremy Shefner, M.D., Ph.D. (The Research Foundation of the State University of New York)  

Motor unit number estimation in SMA mice

Giorgio Battaglia, M.D. (National Neurological Institute “Carlo Besta”)

Identification and functional characterization of Axonal SMN protein (a-SMN)

Tessa Gordon, Ph.D. (University of Alberta at Edmonton)

Studies of the mechanisms of progressive muscle weakness in spinal muscular atrophy

Marcel van den Heuvel, Ph.D. (University of Oxford)

The role of SMN in RNA metabolism

Alexander Mackenzie, M.D., Ph.D. (Children's Hospital of Eastern Ontario)

Screening of HDAC inhibitors for SMN2 upregulation

Brunhilde Wirth, Ph.D. (University of Cologne)

Search for SMA modifying genes    

Zhigang He, Ph.D. (Children's Hospital of Boston)

Assessment of possible involvement of axon regeneration and sprouting defects in the pathology of spinal muscular atrophy

Regeneron Pharmaceuticals, Inc.

Generating mouse models for SMA

Anneliese Schaefer, Ph.D. (Washington University School of Medicine)

In vivo imaging of motor axons and neuromuscular junctions in a mouse model of spinal muscular atrophy

2005 Young Investigator Award, co-sponsored with the American Academy of Neurology

Mustafa Sahin, M.D., Ph.D (Children’s Hospital of Boston) The role of SMN in axon outgrowth and targeting

Michael Sendtner, M.D. (University of Wuerzburg)

Characterization of the role of the SMN protein and its binding partners for axon growth, differentiation and function of motoneurons  

Curis, Inc.   

Development of motor neuron assays to screen for drug candidates for the treatment of SMA

CombinatoRx, Inc.   

Application of combination high-throughput screening to discover drug combinations that upregulate SMN protein levels

Adrian Krainer, Ph.D. (Cold Spring Harbor Laboratory)

Directed method to correct splicing of SMN2    

Umrao Monani, Ph.D. (Columbia University)  

Spinal muscular atrophy - translating basic findings into a potential treatment

Christine Beattie, Ph.D. (The Ohio State University)

A drug screen for spinal muscular atrophy in zebrafish

2004 Young Investigator Awards, co-sponsored with the American Academy of Neurology

Christine DiDonato, Ph.D. (Northwestern University) Pharmacological treatment strategies using neuroprotective agents in cellular and animal models of SMA

Umrao Monani, Ph.D. (Columbia University) The role of SMN in motorneuron development

Kathryn Swoboda, M.D. (University of Utah School of Medicine) Refinement of outcome measures for clinical trials in infants and children with spinal muscular atrophy

Brent Stockwell, Ph.D. (Columbia University; The Whitehead Institute for Biomedical Research) 

A high-throughput cytoblast assay for monitoring SMN protein in concentration in mammalian cells and High-throughput screen for compounds that increase SMN protein level

Gary Bassell, Ph.D. (Albert Einstein College of Medicine)

The role of SMN in axonal localization of mRNP complexes

Ching Wang, M.D., Ph.D. (Stanford University School of Medicine)

Pilot clinical trial of hydroxyurea on SMA patients

Last Updated: March 2010