Research Supported by JGSF
Your generosity has enabled the JGS Fund1 & JGSF to support some of the leading global research focused on curing and treating EB. The JGS Fund & JGSF historically and currently support the work of the following researchers:
Drs. David Woodley & Mei Chen
Drs. Woodley and Chen of the University of Southern California are pioneering a protein replacement therapy for Dystrophic EB (DEB). Drs. Woodley and Chens’ treatment replaces the protein that is missing in DEB kids – Collagen VII – with localized and potentially systemic injections. The implications of success are life-altering. Imagine what it means to a child whose skin tears off in her shoes to have a localized injection that renders the skin on her feet potentially normal or for a child whose throat tears from eating a cookie to be able to do so pain-free. Drs. Woodley and Chen have developed this treatment over the past 10 years and hope to commence a Phase I human trial shortly. In June 2011, Lotus Tissue Repair, a private venture-back company, received $26 million in funding to take Drs. Woodley and Chen’s protein replacement therapy through commercialization in the United States.
Dr. John McGrath
Dr. John McGrath is a leading EB researcher and dermatologist at Kings College in London, United Kingdom. Dr. McGrath has shown that localized injections of human fibroblasts (a type of cells) can render the skin more normal, similar to protein therapy. Dr. McGrath’s current work focuses on the disfiguring, scarring and increased risk of developing fatal skin cancer that afflicts those with RDEB. His study is expected to provide clues to improve how the skin of those with EB is monitored and, most significantly, how to develop new treatments that alter the activity and clinical course of RDEB – diminishing the scarring tendency/severity and reducing the risk of developing skin cancer.
Dr. Jakub Tolar
Dr. Tolar is the director of Stem Cell and Gene Therapies at the University of Minnesota. Dr. Tolar’s team has pioneered the use of bone marrow transplantation as a treatment for Recessive Dystrophic and Junctional subtypes of EB. He is currently focusing on gene therapy, by utilizing a safer experimental technology to “fix” the genetic abnormality causing EB. The goal of Dr. Tolar’s work is to repair the cells of a child with EB, enabling those cells to produce the important missing protein Collagen VII. Once repaired, the cells would be reintroduced to the body, which would then help the skin heal. By developing these new strategies, Dr. Tolar hopes to bring the benefits of bone marrow transplants to EB patients without the traumatic and often negative consequences of such transplants.
Drs. Peter Marinkovich & Alfred Lane
Drs. Marinkovich and Lane of Stanford University are developing a protein replacement therapy, which, through a proprietary delivery method, will deliver the missing protein, type VII collagen, to the optimal location and with the optimal dose to a child suffering from Dystrophic EB. Replacing the missing protein in a child with Dystrophic EB would potentially enable his or her skin to act more normally, thereby changing this child’s quality of life significantly.
The Epidermolysis Bullosa Clinical Research Consortium (EBCRC)
The EBCRC has been formed to conduct clinical and translational research in EB and to improve the lives of patients with EB. Through collaboration among leading EB research institutions, the EBCRC will facilitate the ability to make breakthroughs in the treatment - and eventual cure - of EB. Currently, the EBCRC is developing the infrastructure necessary to enhance collaborative multi-site clinical research and to secure funding for additional translational EB research. Current members of the EBCRC are leading physicians and researchers at the Children’s Hospital (University of Colorado), Cincinnati Children’s Hospital, Columbia University, Hospital for Sick Children (Toronto), Northwestern University, Stanford University, University of Massachusetts Medical School and University of Miami.
The JGS Family Fund1 has also supported key patient care initiatives.
DebRA Nurse Education
Geri Kelly is the DebRA nurse educator and is considered one of the best resources of EB knowledge in the world. Geri helps patients, families, doctors and caregivers manage the disease from the moment of birth. Geri answers questions about products and procedures, and provides support to families as they struggle to deal with the debilitating effects of EB. To learn how to contact Geri, please click here.
Family Crisis Fund at DebRA
The family crisis funds exists to help individuals with EB who are in need of aid. The estimated annual cost of caring for an individual with a severe form of EB is between $50,000 - $200,000 per year. Families in need of help can apply for a grant via DebRA.
1 The JGS Fund is kept within Debra of America.