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OHSU becoming national leader in rare disease research

Susan Hayflick, M.D., world-renowned expert on NBIA disorders, named chair of OHSU’s Department of Molecular & Medical Genetics

Brittany Leap's doctor told her parents they had no idea what was happening with Brittany.

But something seemed wrong. Beginning at 18 months, and through her early years, Brittany's motor skills were not normal. She was clumsy, tripping repeatedly, falling down often.

Finally, in March 2006, after nine years of confusion and after an MRI of Brittany's brain was sent to Oregon Health & Science University's Susan Hayflick, M.D., Rich and Sandy Leap and their daughter finally had their answer.

Hayflick confirmed that Brittany, 10 at the time, had PKAN disease — which is one of a group of rare disorders called neurodegeneration with brain iron accumulation (NBIA). The news was devastating for the Leaps. PKAN and NBIA have no cure and limited treatments.

But, like frustrated families from all over the world who have children with NBIA and who find their way to Hayflick and OHSU, the Leaps at least finally had some resolution.

They had someone, in Hayflick — one of the leading experts in the world on PKAN and NBIA — who could guide them. And they had hope, in the research Hayflick and her team continue to do on NBIA disorders.

"It's not just about the science for them," says Sandy Leap. "They truly care about the families. They are always there and ready, anytime we call and email. You can just feel how much they care."

And, says Leap: "We think there's going to be treatment and a cure someday. And we think Dr. Hayflick will be the one to find it. We will do anything we can to support her."

After four years as interim chair, Hayflick last week was named chair of the Department of Molecular & Medical Genetics at OHSU. She has been on the faculty at OHSU since 1993.

She is one of several "stars" at OHSU, which has become one of the leading academic institutions in the United States doing research on rare diseases.

In late 2009, the National Institutes of Health selected OHSU Doernbecher Children's Hospital to lead one of the clinical research groups dedicated to finding new approaches to the diagnosis and treatment of rare diseases.

OHSU Doernbecher is leading a multicenter team of investigators focused on a group of rare diseases called sterol and isoprenoid diseases. The consortium of investigators is conducting two major clinical trials and six pilot research studies through 2014.

Robert Steiner, M.D., professor of molecular and medical genetics and vice chairman for research in pediatrics at OHSU Doernbecher Children's Hospital, is leading that work.

“We were tremendously honored to be chosen one of only 19 rare disease consortia funded in the United States. We hope our work, like that of Dr. Hayflick, will benefit our patients with rare diseases who often lack effective therapies,” Steiner said.

The National Institutes of Health define a rare disease as one generally affecting fewer than 200,000 people in the United States. About 6,500 such disorders have been identified, affecting an estimated 25 million Americans.

At OHSU, about 60 researchers are studying more than 150 rare diseases.

"OHSU rare disease researchers not only bring hope for people who are afflicted with these diseases, which often get little attention," said Hayflick. "Our work and discoveries also inform and advance other medical research, helping scientists learn more about other disorders like Parkinson’s disease and cancer.”

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