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A world-renowned University of Maryland Medical Center neurologist will lace up his running shoes and take to the streets for the New York City Marathon in honor of his patients.

It’s more than just a race for Dr. Peter Crino. It’s an opportunity to raise awareness — and funding — for a rare, genetic disease that he treats, tuberous sclerosis complex (TSC).

“Tuberous sclerosis complex is a genetic, or sporadic, disorder that affects multiple systems in the body and is highly associated with epilepsy — about 80% of people have epilepsy — and autism — about 40% to 50% have autism — but also systemic manifestations, like kidney disease, lung disease, skin disease. So, it really truly is a multi-system disease,” Crino said.

In addition to being a leading researcher on TSC, Crino is UMMC’s chief of neurology, director of the Tuberous Sclerosis Complex Center of Maryland and chairman of the Silver Spring-based nonprofit Tuberous Sclerosis Alliance.

TSC occurs in one out of every 6,000 births, involving a mutation in one of two genes. About 50,000 people in the U.S. have been diagnosed with TSC.

Crino described it as a gateway, or lynch-pin, disease and that by understanding autism or epilepsy in TSC, it’s possible that those conditions in other disorders could be understood.

Crino predicts a big step forward in treating TSC and is pushing ahead to fund more research.

“We don’t have a cure yet. We have some treatments but coming up with a cure for this disease would be incredible,” Crino said. “There’s been some whisperings about gene therapy to actually completely reverse the genetic mutations. So, I’m very optimistic, in the next five to 10 years, we’ll actually have real treatments that can really push the autism, push the epilepsy aside and allow individuals to live more normal lives.”

The New York City Marathon takes place Nov. 6. Crino has a goal of raising $5,000 and blew past that — and hopes to raise even more.

 

Source: wbaltv.com, Mindy Basara

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