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OHSU scientists, at leading edge of rare disease research, host Feb. 29 conference

Oregonian David Frohnmayer, who’s lost two daughters to a rare disease, will speak about importance of continued research

OHSU Rare Disease Day Conference


Feb. 29, 4 p.m. to 8:30 p.m.


Joseph Vey Conference Center
OHSU's Doernbecher Children's Hospital

The family of former University of Oregon President David Frohnmayer knows the tragedy of a “rare disease.”

The Frohnmayer family has lost two daughters to complications from Fanconi anemia, a genetic disorder that occurs in 1 out of 135,000 births and leads to bone marrow failure and often to leukemia and other cancers. The Frohnmayers have another daughter, 25-year-old Amy, who has the disease. The average life span for people born with Fanconi anemia is 20 to 30 years.

But the Frohnmayer family, which founded the Fanconi Anemia Research Fund 23 years ago, sees hope in advances medical researchers are making in tackling Fanconi anemia and hundreds of other rare diseases. “The important research being done on Fanconi anemia is vital not only because it can help people like Amy, and thousands of others who have this disease,” Frohnmayer said. “It is also important because what scientists learn about FA gives them new insights into tackling other diseases, especially cancer and leukemia.”

Frohnmayer will talk about that hope, and those other benefits, at a special Rare Disease Day conference on February 29 at Oregon Health & Science University, considered a national leader in rare disease research.

Amy Frohnmayer, an OHSU employee, will also attend the OHSU conference.

In the United States, a disease is considered rare if it is believed to affect fewer than 200,000 U.S. residents. Though each disease affects a relatively small number of people, there are almost 7,000 rare diseases affecting 25-30 million people in the United States.

OHSU's rare disease conference is one of many events across the world that will mark international Rare Disease Day. But OHSU has a special distinction in rare disease research. It is one of the leading academic institutions in the United States doing research on rare diseases. It has established a Rare Disorders Research Consortium in which more than 60 OHSU scientists study more than 90 rare disorders with more than $35 million in research funding.

OHSU scientists are especially known nationally for their work studying eight rare diseases, including Fanconi anemia.

OHSU’s large Fanconi anemia research community has established international partnerships focused on understanding and correcting FA’s defects in DNA repair, signaling, and hematopoiesis. One team of researchers led by Maureen Hoatlin, Ph.D., associate professor in OHSU’s Department of Biochemistry and Molecular Medicine, established a novel method to study Fanconi anemia. “Our long-term goal is to better understand the function of the proteins in the Fanconi anemia pathway,” said Hoatlin, who is co-chair of OHSU’s rare disease consortium. “We hope our work will lead to new approaches for targeted drug design in Fanconi anemia, as well as new cancer treatments for the general population."

The keynote speaker for OHSU's Rare Disease Day will be William Gahl, M.D., Ph.D., clinical director of the National Human Genome Research Institute and the National Institutes of Health’s Undiagnosed Diseases Program.

A range of OHSU experts studying various rare diseases will also speak at the conference.

“This conference, and Rare Disease Day in general, highlights the importance of our work to tens of millions of people around the world who suffer from these diseases,” said Susan Hayflick, M.D., chair and professor of the Department of Molecular & Medical Genetics at OHSU and co-chair of the rare disorders research consortium. “Research on rare diseases is, in many ways, their only hope. And we scientists come to work every day remembering that."

The OHSU Rare Disease Day conference will run from 4 p.m. to 8:30 p.m. at the Joseph Vey Conference Center at OHSU's Doernbecher Children's Hospital.

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