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March 30, 2009
Funding research to target rare disorder provides hope

By Carie Paine

“Someone has to be the first to be cured.”

Those are the words Matt Sames expressed to his wife, Lori, in the wake of their daughter Hannah’s diagnosis with giant axonal neuropathy. Their daughter was just four years old at the time. Giant axonal neuropathy (GAN) is a rare genetic disorder that damages the nerve pathways that carry signals from the brain. The symptoms begin in the extremities: a dropped foot, awkward gait, tripping. Eventually victims have no ability to move, eat, or breath. The disease is terminal in young adulthood.

It took 18 months for doctors to diagnose the uncommon disorder in Hannah. The first symptoms surfaced when she was 2 and family members noticed the arches on her feet rolled inward when she walked. Refusing to accept the lack of treatment options and minimal research being conducted on GAN, the Sames established Hannah’s Hope, a public charity dedicated to funding research for a treatment and eventually a cure for GAN. “In our first seven months we raised about $400,000 for research,” says Lori.

The latest recipient of a gift from Hannah’s Hope is Emory neurosurgeon Nicholas Boulis. Boulis, who also is a gene therapist, received $30,000 to bolster his research on neuro-gene therapy. His research focuses on finding the best way to deliver an altered gene to the nervous system of patients suffering from GAN. He is currently working to develop a surgical device to allow the delivery of spinal cord therapeutics including drugs, viral vectors, and stem cells. Boulis and his team will collaborate with virologist Jude Samulski’s team at the University of North Carolina’s Gene Therapy Center to use preliminary data to apply for a National Institutes of Health exploratory/developmental research grant in June of this year.

Lori says she knew she found the right researcher when Boulis told her he “gives a lot of credit to parents who refuse to take no for an answer.” Sames has made refusing to accept “no” part of her mission since Hannah’s diagnosis.

“We could not let another family receive the news we did and hear nothing could be done,” Sames says.
The timing seems to be right for giving Hannah hope.

“GAN involves a defect in the gene for gigaxonin, an important protein for maintaining the health of axons. We think this disease may provide insights that will guide the application of neuro-gene therapy to neurodegenerative disease,” says Boulis, adding that if he and his colleagues can devise a treatment mechanism for GAN, they will take a major step in the treatment of other neurodegenerative diseases like amyotrophic lateral sclerosis (ALS or Lou Gehrig’s disease) and Alzheimer’s disease, which lack such a clearly defined genetic culprit.