CHOP Hematologist and Gene Therapy Researcher Honored

For her pioneering hemophilia and gene therapy research, Children’s Hospital hematologist Katherine A. High, MD, director of the Center for Cellular and Molecular Therapeutics (CCMT), was recently honored with the 2013 E. Donnall Thomas Lecture and Prize at the American Society of Hematology (ASH) Annual Meeting.

The lecture and prize is named for the late E. Donnall Thomas, MD, who was awarded the Nobel Prize in Medicine in 1990 for his work developing bone marrow transplantation as a leukemia treatment. The award recognizes “pioneering research achievements in hematology that have represented a paradigm shift or significant discovery in the field,” according to the ASH. In her talk at the ASH Annual Meeting, Dr. High discussed the evolution of gene therapy.

“Dr. High is unquestionably a leader in gene therapy and has made remarkable, groundbreaking contributions to the field, demonstrating creativity, determination, and the ability to overcome numerous obstacles,” said Janis L. Abkowitz, MD, ASH president.

An internationally recognized hematologist and molecular researcher, in addition to her role at the CCMT Dr. High is also a professor of Pediatrics at the University of Pennsylvania and a Howard Hughes Medical Institute investigator. She has led translational studies in hemophilia, including reporting on the first cure of hemophilia B in a canine model of the disease using gene therapy.

Recently, Dr. High’s work has expanded to include clinical studies of gene therapy for other inherited diseases, such as congenital blindness. For example, Dr. High contributed to a study of RPE65-related inherited retinal dystrophy, a rare retinal disease that progresses to total blindness by adulthood. The study team reported on improvements in vision in three adult patients previously treated with an innovative gene therapy in one eye who then received the same therapy in their second eye. And in July, a research team led by Dr. High published a study in Science Translational Medicine on their work with a bioengineered decoy designed to improve gene therapy by fooling the immune system.

In addition, Spark Therapeutics, a new “fully integrated gene therapy company” based in part on Dr. High’s work, was launched in October with a $50 million capital commitment from CHOP. Along with Children’s Hospital’s J. Fraser Wright, PhD, Dr. High is scientific co-founder of Spark. Dr. High is also a member of a number of prestigious organizations, including the American Academy of Arts and Sciences.

“I am honored to receive this award from the ASH, particularly because Professor Thomas was a pioneer in the development of a novel type of therapy, bone marrow transplantation, about which many people were skeptical in its early days, but which is now a well-accepted therapy for hematologic, oncologic, and genetic diseases,” Dr. High said.