Announcing Our 2014 Emerging Investigator Awards SMA Research Grantees

We are extremely excited and proud to announce our 2014 Emerging Investigator Awards grantees: Barrington Burnett, Ph.D., Uniformed Services University of the Health Sciences, Sara Custer, Ph.D., Indiana University School of Medicine, and Faraz Farooq, Ph.D., Children’s Hospital of Eastern Ontario.

We started the EIA program in partnership with FightSMA in 2013 to support emerging talent and new approaches to SMA research. With today's announcement, our EIA program has now funded eight SMA researchers and programs, each working on different approaches to the disease.

It’s clear that we have entered a very exciting stage for SMA research with several promising programs working through or headed to human clinical trials and a healthy number of programs backstopping those and tackling SMA from every angle. We’re proud that our EIA program will continue to play an integral role in bolstering the existing research landscape by ensuring that emerging talent and fresh ideas are encouraged and supported. Like past grantees, we are anticipating great results in the future from our 2014 recipients.

Congratulations to our 2014 EIA grantees – we sincerely thank you for your dedication to the SMA cause and we wish you all the best with your exciting research!


Barrington Burnett, Ph.D., Uniformed Services University of Health Sciences

Dr. Burnett’s Program >> Targeting the ubiquitin proteasome system to treat spinal muscular atrophy

Dr. Burnett’s Research Summary >> SMA disease severity correlates with survival motor neuron (SMN) protein levels so most current SMA therapeutic approaches aim at increasing the expression or stability of SMN. The relative rates of protein synthesis and degradation governs the level of each cellular protein but very little is known about the factors affecting SMN protein degradation. We thus performed a genome-wide RNAi screen utilizing a SMN-luciferase reporter cell line to identify genes that when reduced increases SMN protein levels. Genes identified in the screen allows us to investigate molecular pathways that regulate SMN protein turnover and provide novel avenues for therapeutic development for the treatment of SMA.


Sara Custer, Ph.D., Indiana University School of Medicine

Dr. Custer’s Program >> Expression of alpha-COP ameliorates disease severity in cell culture and animal models of Spinal Muscular Atrophy

Dr. Custer’s Research Summary >> We are interested in the basic biology of SMN in the neuron, particularly its role in the growth and maintenance of neuronal processes. We are characterizing the interaction between the SMN protein and the transport vesicle protein alpha-COP, which work together to deliver a pool of SMN through the secretory pathway to the growing neurite. We use both cell culture and novel viral-mediated transgenic mouse models to study the importance of the SMN/alpha-COP interaction in SMA.


Faraz Farooq, Ph.D., Children’s Hospital of Eastern Ontario

Dr. Farooq’s Program >> Validation of a Spinal Muscular Atrophy Pathophysiologic Model: A central role for presynaptic beta β-actin depletion in SMA NMJ pathology

Dr. Farooq’s Research Summary >> My research focuses on understanding the function of SMN protein within motor neurons which, when deficient, causes or contributes to neuromuscular junction loss in SMA. We believe such analysis may help in the development of novel SMN independent SMA therapeutic strategies. We are also initiating an SMA dose escalation trial utilizing FDA approved celecoxib for human SMA. The trial will establish whether celecoxib treatment increases SMN protein levels in patient's blood cells, aiding dose optimization for future trials.

To read the joint press release about the 2014 EIA grantees, click HERE.

For more information about our 2014 EIA program, click HERE.

For more information about our 2013 EIA program, click HERE.

To make a tax-deductible donation to support our efforts, click HERE.