Analyzing genomes for a diagnosis

CHAPEL HILL -- (03/02/2018) -- Call it a medical mystery solved by science. Years after one woman lost the ability to walk, cutting-edge research helped her get back on her feet and put down her crutches for good.

Elizabeth Davis never thought one day she would be able to play catch with her dog, Molly. Davis explained, “At six years old, I started walking on my toes, and that’s where it started.”

By age 14, Elizabeth needed crutches to get around. She had five surgeries on her feet, but nothing worked.

Davis continued to tell Ivanhoe, “I didn’t go to the movies; I didn’t go to the mall. No, I missed out on a lot.”

And worse, no one could tell her what was wrong. Until she met geneticist Jim Evans.

Jim Evans, MD, PhD, Bryson Distinguished Professor, Genetics and Medicine at UNC Chapel Hill said, “That’s what we were really interested in doing; to figure out how we can use this technology to benefit patients.”

UNC researchers analyzed the genomes of more than 600 patients who most likely had a genetic disease, but never received a diagnosis like Elizabeth.

Doctor Evans stated, “The results exceeded our expectations!”

After 30 years, Elizabeth finally got her diagnosis. Davis said, “Dopa-responsive dystonia. Well, my life changed after that. That’s it, my life changed.”

Three days after Elizabeth was put on a medication to treat the disorder that causes involuntary muscle contractions, something amazing happened.

“All of a sudden I felt my toes, and I can move them, I moved them,” Davis explained.

“She can now walk without crutches. It’s the kind of moment you spend a whole career in research hoping to see,” said Doctor Evans.
Doctor Evans says with more genetic research, this is a sign of things to come.

Davis continued, “It’s changed my life, and how I feel, terrific.”

Giving hope to those still looking for an answer.

UNC Chapel Hill is now conducting phase two of the study thanks to a grant from the National Institutes of Health. If patients think they have a disease that is genetic and want to get involved in the research please see the related links section of this story.

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