Cure SMA Awards $140,000 Grant to Charlotte Sumner, MD, Johns Hopkins University

ELK GROVE VILLAGE, Ill. - April 27, 2016 - PRLog -- Cure SMA has awarded a $140,000 research grant to Charlotte Sumner, MD, at Johns Hopkins University for her project, "Assessing the reversibility of proximal axon abnormalities in SMA mice."

Axons are long projections that grow out of motor neurons and send information to other neurons or muscles. In individuals affected by SMA, these axons appear to be damaged early on in development by the loss of SMN protein caused by the mutation in the SMN1 gene.

Dr. Sumner's project will look at how and when these axons are affected, and whether those effects can be fixed by oligonucleotides. Oligonucleotides are small snippets of synthetic genetic material that bind to ribonucleic acid (RNA). In SMA, they can be used to fix the splicing of SMN2, the SMA "backup gene," meaning that SMN2 would be able to make a complete SMN protein. One example of this is the drug nusinersen, being developed by Biogen and Ionis Pharmaceuticals.

The grant to Dr. Sumner is part of $890,000 in new basic research funding that Cure SMA is currently announcing.

Basic research is the first step in Cure SMA's comprehensive research model. Basic research investigates the biology and cause of SMA, in order to identify the most effective strategies for drug discovery. Cure SMA also uses this funding to develop tools that facilitate SMA research.

Meet Dr. Sumner

Who are you?

I am an adult neurologist with specialized training in neuromuscular disease and care for patients with SMA as well as other inherited neuromuscular disorders. I also head a research laboratory focused on understanding the defects causing spinal muscular atrophy and developing treatments for the disease.

How did you first become involved with SMA research?

During a research fellowship at the NIH under the mentorship of Kenneth Fischbeck, I attended my first Cure SMA meeting in 2002. After meeting families and researchers at this meeting, I decided to switch my research focus from ALS to SMA. One of Cure SMA's greatest accomplishments has been their ability to recruit new people to the SMA field.

What is your current role in SMA research?

We are focused on several questions in our laboratory. First, by studying human tissues, we are trying to define the most important pathologies of the disease to further characterize in mouse models. These studies have taught us that impairments of motor axonal development during fetal and early postnatal stages of development may be critical drivers of early muscle weakness and triggers of motor neuron death.

What do you hope to learn from this research project?

Our objective is to further characterize how the loss of SMN protein causes axonal defects in motor neurons, and to determine whether and when during development they can be reversed by SMN2 splice‐switching oligonucleotides, like nusinersen.

How will this project work?

We are currently utilizing mouse models to further define this axonal pathology over time and its relationship to motor neuron death by counting the number of axons at different prenatal and post-natal time points. We are also testing whether prenatally delivered SMA therapeutics can prevent these pathologies. In other work, we are also assessing novel mechanisms that may regulate SMN expression and may serve as novel therapeutic targets for the disease.

What is the significance of your study?

It is unknown how SMN protein deficiency causes dysfunction and ultimately death of motor neurons. This has severely limited the ability to identify non‐SMN therapeutic targets. We anticipate that these studies will provide important insights regarding the earliest functional and cellular abnormalities of SMN‐deficient motor neurons, which might then be amenable to novel therapeutic interventions and guide optimal timing for therapeutic intervention.

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About Cure SMA

Cure SMA is dedicated to the treatment and cure of spinal muscular atrophy (SMA) - a disease that takes away a person's ability to walk, eat, or breathe. It is the number one genetic cause of death for infants.

Since 1984, we've directed and invested in comprehensive research that has shaped the scientific community's understanding of SMA. We are currently on the verge of breakthroughs in treatment that will strengthen our children's bodies, extend life, and lead to a cure.

We have deep expertise in every aspect of SMA - from the day-to-day realities to the nuances of care options - and until we have a cure, we'll do everything we can to support children and families affected by the disease.

Learn more about how you can help us reach a treatment and cure at www.cureSMA.org.