Dr. Tim Benke with Rett syndrome patient Sophie Shorma

The first study to go through the NeuroNEXT program is a clinical trial for spinal muscular atrophy (SMA), a genetic disease where the muscle between the brain and the spinal cord dies prematurely. SMA affects babies, making them weak and unlikely to live long. The new clinical trial – currently underway – aims to understand how to ultimately circumvent the genetic survival defect for spinal motor neurons. This is the first study of its kind for SMA. "It's a rare opportunity that only could have happened because the National Institutes of Health had had the foresight to set up this grant system," Dr. Benke said. "This is good taxpayer dollars at work. I think people need to know that research doesn't just happen."

"You meet a girl and she's in a wheelchair. She's not saying anything or doing anything," Tim Benke, M.D., Ph.D., said. "She has unusual movements with her hands. But then you make eye contact with her and you know there's something in there you have to get out."

Dr. Benke, Co-Director for research in the Neuroscience Institute, talks about Rett syndrome, a rare genetic disorder that affects females after their first year of life. After the girls develop normally the first year, they suddenly stop; they can no longer walk, use their hands or talk.

Simply, Dr. Benke is looking for a cure. His research is part of the NeuroNEXT program, a multi-center, National Institutes of Health-funded consortium for clinical trials, organized to find cures for rare neurological diseases such as Rett syndrome.

When it comes to rare disease, "It doesn't matter how rare it is – it's your kid," Dr. Benke said. "And we know that. The genetic revolution has broadened our understanding of rare disease and that trickles down to our understanding of major diseases."

Testing for rare genetic syndromes – which can entail testing all 25,000 genes – can lead to other discoveries, such as common presentations of rare diseases and rare presentations of common diseases (a research theme within the Neuroscience Institute).

But it's not all about research. A Rett syndrome cure is not imminent, so in the meantime, Dr. Benke directs patients to the hospital's new, multi-disciplinary Rett Syndrome Clinic. The clinic engages 14 sub-specialties that a girl can see in a single afternoon.

"Parents just want to know how they can take care of their kid in the best way possible," he said.

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