CHAPEL HILL, North Carolina – It's been a crushing personal experience.
"My mom had nine children, yeah, it was a big family."
Wanda O'Neal gets emotional when talking about her eight siblings.
"I knew that my sisters and brothers had cystic fibrosis."
In fact, six out of the nine children were diagnosed with the debilitating lung disease.
"My sister Nancy, she was the first to pass away."
One by one, Wanda watched helplessly as five of her siblings became sick with pneumonia, eventually succumbing to C-F.
"They were just so brave."
Searching for a way to turn tragedy into triumph, Wanda has dedicated her life to C-F research at the University of North Carolina.
"We're making steps."
Amazingly, Wanda's 50-year old brother Mike is living with C-F. Her team of researchers is working to identify what's helped him survive.
More than 10 million Americans are carriers of one mutation of the CFTR gene. To have CF, a child must inherit two copies of the CFTR gene that contain mutations, one copy from each parent.
Researchers are also taking the CFTR protein that's defective in patients and altering it in the lab so it works better to keep mucus in the lungs hydrated. North Carolina scientists are collaborating with drug companies on treatments that would make the defective protein work better in patients.
"We're developing the technology to actually personalize it, to tailor the optimal therapy for that person," said Dr. Richard Boucher, director of the Marsico Lung Institute at the University of North Carolina.
NEW RESEARCH: Researchers at the University of North Carolina a have found that CF patients with the Delta F508 mutation, the CFTR gene, does not fold into its correct form and cannot make it to the cell surface. Other genes and pathways are involved. These genetic pathways may respond to specific therapies, including a combination therapy of two new drugs. They are hoping to find out if people who respond to these therapies will have higher expression of the genetic pathways they`ve identified. If so, they may be on the cusp of personalized approaches to treating CF patients at the level of their genes.
(Sources: http://endeavors.unc.edu/the_family_disease/ and Dr. Wanda O`Neal)
Wanda says she will never stop working to find a cure for C-F, with the memory of her siblings pushing her on.
"It makes a difference that people still remember them for the people that they were, not the disease that they had."
The UNC researchers say the new treatments should be available in three to five years. The hope is to extend the life span of patients from their 40's well into their 70's.
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