Gene Therapy Researcher Honored by Children’s Hospital of Philadelphia

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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Katherine High, MD, has received the gold medal from Children’s Hospital of Philadelphia (CHOP) in recognition of her work to advance gene therapies for hemophilia and other genetic disorders.

In CHOP’s 166-year history, this award — to recognize the most significant achievements in improving the health of children — has been given 12 times. CHOP last awarded its gold medal in 2006.

“It is a tremendous honor and a distinct pleasure to present this award to Katherine High, an inspirational scientist who did something that few thought possible: developing gene therapies and taking them from bench to bedside,” Madeline Bell, CHOP’s president and CEO, said in a press release.

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Gene therapies are a broad category of treatments that aim to correct the genetic mutations causing a disorder. Usually, this involves delivering a healthy copy of a mutated gene to cells. For example, hemophilia is caused by mutations in genes that encode proteins needed for blood clotting — factor VIII in the case of hemophilia A, and factor IX in the case of hemophilia B. Gene therapies for hemophilia broadly aim to deliver functional versions of these genes to patients in order to restore the production of the clotting proteins they are missing and thereby prevent excessive bleeding.

High came to CHOP in 1992 from the University of North Carolina, where she had completed her doctoral training. Her early research was aimed at developing gene therapies for hemophilia, but with the gene therapy field still in its infancy, she continually hit roadblocks.

Gene therapies often rely on vectors — a construct, usually made by modifying a virus, that can deliver genetic material to cells. After a series of safety issues were reported with some early attempts at gene therapy, many pharmaceutical companies stopped manufacturing these vectors. Faced with this obstacle, High decided to make her own gene therapy vectors. This eventually led to the establishment of the Center for Cellular and Molecular Therapeutics (CCMT) at CHOP in 2004.

She then entered in a collaboration with scientists at the University of Pennsylvania in 2005, working to develop a gene therapy for Leber’s congenital amaurosis (LCA), a genetic condition that ultimately leads to blindness. The first-in-human clinical trial of this therapy was conducted by the CHOP CCMT starting in 2007, and the research eventually led to the approval of the gene therapy in the U.S. and Europe.

“Through her innovative vision, she and her colleagues restored the vision of others, helping children around the world and laying the foundation for future breakthroughs for those with genetic diseases. Her hemophilia research has revolutionized the field, bringing ‘once and done’ therapy for this bleeding disease one step closer to reality,” Bell said.

After her time at CHOP, High served as co-founder, president, and head of research and development at the spin-off company Spark Therapeutics, which is working to develop hemophilia gene therapies. High stayed at Spark until 2020, and she joined another gene therapy company, AskBio, in 2021.

She is currently president of therapeutics for AskBio.

“I am so grateful to receive this award from CHOP, my home for more than two decades,” High said. “CHOP allowed me to focus on my research, and again and again provided invaluable support at crucial junctures that allowed me to take the next step and bring gene therapy to patients. The hospital’s focus on and interest in translational work was critical in allowing me to pursue my research.”