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Leader in Genetic Heart Research Meets Study Patients From Oregon for the First Time at OHSU

   Portland, Ore.

Howard Hughes Medical Institute researcher presents "Remodeling the Human Heart"

When 8-year-old Ben and 12- year-old Emily Wright came to Doernbecher Children's Hospital five years ago to have the holes in their hearts fixed, their parents had no idea how much this experience would change their future. No one had ever considered that their dad's, grandma's and aunt's abnormal heart rhythms were linked to the holes in the childrens' hearts. Doernbecher cardiologist Michael Silberbach, M.D., connected the dots that led to the discovery that all of them had the same genetic heart disease.

"We were surprised and overwhelmed to think that my grandkids may get this too," said Lowanna Wright, Ben and Emily's mom.

With their consent, Silberbach, a researcher in the OHSU Heart Research Center, sent their blood samples to a well-known and respected leader in cardiac genetics, Christine Seidman, M.D., along with the clinical backgrounds of two other unique families who had significant heart problems. Each family agreed to participate because multiple generations of their loved ones had suffered from cardiac defects and heart electrical system failures. Everyone hoped that Seidman's laboratory could find the gene that caused this deadly disease. She succeeded. Her team discovered that mutations in the gene Nkx2.5 caused the problems. Their discovery was the first to link human heart disease to mutations in this important gene. Knowing the connection between a gene defect and a specific cardiac disease indicates the gene plays a vital role in normal and abnormal heart development.

Seidman will share her wisdom about the role of genes in the developing human heart as the featured speaker at this year's OHSU Heart Research Center Annual Lecture on April 29 at 6:30 p.m. in the OHSU Auditorium on the Marquam Hill Campus. As part of her community-oriented presentation, "Remodeling the Human Heart," she will discuss the role played by genes in changing the heart's shape and function as it develops. She will also discuss how patients participating in her research have helped lead her team to scientific discoveries impacting heart disease.

The Wrights will share their story at the presentation and get a chance to meet Seidman for the first time. "I'm going to thank her for taking time to work on a problem that affects my family's future," said Lowanna.

Much of Seidmans' work has revolutionized our understanding of heart disease, a disease that impacts many lives. Nearly 5 million Americans are living with heart failure, and 550,000 new cases are diagnosed each year, according to the American Heart Association.

An investigator of the Howard Hughes Medical Institute and Harvard Medical School, Seidman hopes to convey, during her visit to OHSU, the significant role gene mutations play in cardiovascular disease. One of her major discoveries was published last year in the journal Science. Seidman studied four generations of one family, many members of which had dilated cardiomyopathy (heart chamber enlargement). She found that the primary cause for the disease was an abnormal form of the protein phospholamban, or PLN. This discovery may lead to the development of a drug to treat this type of heart disease.

Seidman's lab is able to conduct this research using mouse models created to study the molecular changes caused by gene mutations and to investigate the role of gene-triggered events in cardiovascular development that are not inherited.

Seidman has received high acclaim for her genetic research. In 2002 she and her husband, Jonathan Seidman M.D., were awarded the 12th Annual Bristol-Myers Squibb Award for Distinguished Achievement in Cardiovascular Research. The prestigious award recognized their outstanding contributions to cardiovascular biology and medicine through their research of inherited human disease. Last year the American Heart Association honored Seidman with the Distinguished Scientist award. Seidman has written more than 170 journal articles and received more than 20 awards and honors.

The HRC is proud to host Seidman's lecture as it celebrates its 10th anniversary this year. More than 100 researchers at OHSU from 30 different fields of medicine share information to help further advances in heart research through the HRC. Sharing research results and techniques has helped speed up the progress of OHSU's research into the development of the heart and related diseases. Many of the findings from HRC scientists complement Seidman's work.

This year's lecture is sponsored by the American Heart Association, the March of Dimes Birth Defects Foundation, and Davis, Wright, Tremaine.

For Lowanna, Seidman's research brings hope that medical discoveries will mean her children won't need pacemakers as adults, like their father, grandma and aunt do.

For more information about the lecture and other HRC activities, visit


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