PUBLIC RELEASE DATE:

17-Dec-2014

Contact: Kathryn Ryan kryan@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News @LiebertOnline

New Rochelle, NY, December 17, 2014--Recognized for her pioneering work to develop gene therapy for hemophilia spanning several decades, taking it from the laboratory into human clinical trials, is Katherine A. High, MD, Spark Therapeutics. Also recognized for their demonstration of successful clinical applications of adeno-associated virus (AAV) vector-based gene therapy for hemophilia B are Amit C. Nathwani, MD, PhD, UCL Cancer Institute, and Arthur W. Nienhuis, MD and Andrew M. Davidoff, MD, St. Jude Children's Research Hospital. Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers, is commemorating its 25th anniversary by bestowing this honor on the leading pioneers in the field of cell and gene therapy selected by a blue ribbon panel* and by publishing a Pioneer Perspective by the award recipients. The Perspectives by Dr. High and Drs. Nathwani, Nienhuis, and Davidoff are available free on the Human Gene Therapy website at http://www.liebertpub.com/hgt.

In the Perspective entitled "Gene Therapy for Hemophilia: The Clot Thickens", Dr. High recounts why hemophilia was an attractive early target for gene therapy research and describes the genetic and physiological basis of the disease. She reviews early efforts using gene-based therapy to treat hemophilia B and provides a detailed account of her group's approach using an adeno-associated viral (AAV) vector to deliver the Factor IX gene, which encodes the clotting factor missing in patients with hemophilia B. Dr. High recalls the reasons for selecting skeletal muscle as the injection site for drug delivery, and she describes the limitations and unexpected obstacles that arose, such as patients' immune responses to the AAV vector and evidence of vector genetic material in the semen of the male patients, creating the risk of germline transmission.

In "Our Journey to Successful Gene Therapy for Hemophilia B", Drs. Nathwani, Nienhuis, and Davidoff present a detailed overview of their many years of collaborative research that has included a comparison of the safety and efficacy of different gene therapy delivery sites. The researchers also developed a sensitive assay system to enable detection of low levels of Factor IX and demonstrated stable therapeutic expression of the clotting factor. Over the years, they experimented with AAV vector types to achieve higher gene transfer levels and enable a therapeutic effect using lower and potentially safer doses. They describe the current status of their clinical research program and their early efforts in the development of gene therapy for hemophilia A.

"Hemophilia B has served as the model by which in vivo gene therapies have been evaluated," says James M. Wilson, MD, PhD, Editor-in-Chief of Human Gene Therapy, and Director of the Gene Therapy Program, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia. "Kathy was there from the beginning and has contributed to every major advance in hemophilia B gene therapy. Art, Andy, and Amit came together as a team soon after the turn of the century to eventually launch a clinical trial with a second generation AAV vector that served as a true milestone in the field of gene therapy. These pioneers are well-deserving of this recognition for their tenacity and courage to stay the course."

*The blue ribbon panel of leaders in cell and gene therapy, led by Chair Mary Collins, PhD, MRC Centre for Medical Molecular Virology, University College London selected the Pioneer Award recipients. The Award Selection Committee selected scientists that had devoted much of their careers to cell and gene therapy research and had made a seminal contribution to the field--defined as a basic science or clinical advance that greatly influenced progress in translational research.

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Pioneer Award winners Katherine High, Amit Nathwani, Arthur Nienhuis, and Andrew Davidoff honored