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Technique at University of Hawaii Center for Cardiovascular Research uses tiny bubbles to deliver gene therapy for hemophilia

Date: March 10th, 2017 in JABSOM News, Research    Print or PDF

Pictured: Ralph Shohet, MD, in his laboratory at the John A. Burns School of Medicine.

Scientists at the Center for Cardiovascular Research at the University of Hawaiʻi John A. Burns School of Medicine (JABSOM) hope that patients with hemophilia could one day be treated with gene therapy delivered by tiny bubbles.

The technique could provide an alternative to current treatments for hemophilia, which require frequent injections of a protein (Factor VIII or Factor IX), which is expensive and inconvenient.

“We were able to improve clotting in mice for months after a single treatment,” said Ralph Shohet, MD, Professor of Medicine and Director of the Center.

Hemophilia affects about 20,000 men and boys in the United States and perhaps 400,000 world-wide. Most affected individuals have a severe form of the disease and suffer from frequent and spontaneous bleeding episodes that can result in serious complications.

The microbubbles are made of lipid molecules that won’t dissolve in water. The bubbles are made with DNA that expresses therapeutic genes, and are then injected into the bloodstream. As the bubbles pass through the liver they are popped by a beam of ultrasound and the DNA is deposited in the liver cells, where it makes the missing clotting factor. Hemophilia is an attractive target for gene replacement therapy, because the disease results from a single gene mutation, and low levels of the normal protein can restore clotting function.

“Hemophilia is a chronic debilitating disease. If we can treat it simply, cheaply, and non-invasively with gene therapy we will have helped to fulfill the promise of the modern medical era,“ said Dr. Shohet.

The findings were published in the scientific journal Gene Therapy.

Dr. Cindy Anderson of JABSOM Cell and Molecular Biology in 2013. She is now an now an Assistant Professor at Georgetown University.

The JABSOM research was led by Dr. Cindy Anderson, at the time a graduate student in the Cell & Molecular Biology Department at JABSOM and now an Assistant Professor at Georgetown University, and Dr. Chad Walton, at the time an Assistant Professor of Medicine at JABSOM and now an assistant to the Vice-Chancellor for Research at UH Mānoa. Other investigators included Abigail Avelar of the Center for Cardiovascular Research and Dr. Stefan Moisyadi of the Institute for Biogenesis Research. Funding was from the American Heart Association and the National Institutes of Health.

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